Publications in DiVA – Niklas Dahl
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Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family
Part of Clinical Autonomic Research, p. 421-432, 2023.
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Part of Genes, 2023.
DOI for Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders Download full text (pdf) of Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
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Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs
Part of BMJ Open, 2022.
DOI for Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs Download full text (pdf) of Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs
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GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
Part of Genes, 2022.
DOI for GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease Download full text (pdf) of GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
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Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2
Part of Stem Cell Research, 2022.
DOI for Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2 Download full text (pdf) of Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2
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Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia
Part of Frontiers in Immunology, 2022.
DOI for Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia Download full text (pdf) of Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia
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Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Part of Frontiers in Genetics, 2022.
DOI for Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model Download full text (pdf) of Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
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ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
Part of Frontiers in Molecular Neuroscience, 2022.
DOI for ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function Download full text (pdf) of ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
Part of Clinical Genetics, p. 318-324, 2021.
DOI for A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome Download full text (pdf) of A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
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A combined approach for single-cell mRNA and intracellular protein expression analysis
Part of Communications Biology, 2021.
DOI for A combined approach for single-cell mRNA and intracellular protein expression analysis Download full text (pdf) of A combined approach for single-cell mRNA and intracellular protein expression analysis
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Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors
Part of Stem Cell Research, 2021.
DOI for Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors Download full text (pdf) of Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors
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Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family
Part of Journal of clinical neuroscience, p. 8-12, 2021.
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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
Part of American Journal of Human Genetics, p. 739-748, 2021.
DOI for Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy Download full text (pdf) of Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
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Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
Part of Stem Cell Research, 2021.
DOI for Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A Download full text (pdf) of Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
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Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
Part of International Journal of Hematology, p. 894-899, 2020.
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Aniridia with PAX6 mutations and narcolepsy
Part of Journal of Sleep Research, 2020.
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DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
Part of Clinical Epigenetics, 2020.
DOI for DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors Download full text (pdf) of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
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Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9
Part of Stem Cell Research, 2020.
DOI for Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9 Download full text (pdf) of Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9
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Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)
Part of Stem Cell Research, 2020.
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Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9
Part of Stem Cell Research, 2020.
DOI for Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9 Download full text (pdf) of Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9
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Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
Part of NEUROLOGY-GENETICS, 2020.
DOI for Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations Download full text (pdf) of Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
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Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
Part of BMC Medical Genomics, 2020.
DOI for Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants Download full text (pdf) of Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
Part of Frontiers in Genetics, 2019.
DOI for Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 Download full text (pdf) of Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
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Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
Part of Stem Cell Research, 2019.
DOI for Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations Download full text (pdf) of Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
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Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations
Part of Stem Cell Research, 2019.
DOI for Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations Download full text (pdf) of Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations
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Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
Part of Stem Cell Research, 2019.
DOI for Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant Download full text (pdf) of Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
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Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
Part of Experimental Cell Research, 2019.
DOI for Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality Download full text (pdf) of Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
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Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
Part of Molecular Neurobiology, p. 7113-7127, 2019.
DOI for Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions Download full text (pdf) of Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
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Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
Part of Neurobiology of Disease, 2019.
DOI for Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment Download full text (pdf) of Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
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Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families
Part of Journal of clinical neuroscience, p. 19-23, 2019.
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An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis
Part of Molecular Psychiatry, p. 1674-1684, 2018.
DOI for An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis
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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
Part of Cell reports, p. 3441-+, 2018.
DOI for De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Download full text (pdf) of De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
Part of Human Mutation, p. 1262-1272, 2018.
DOI for Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing Download full text (pdf) of Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype
Part of European Journal of Human Genetics, p. 1871-1874, 2018.
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A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.
Part of European Journal of Human Genetics, p. 848-853, 2017.
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Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
Part of PLOS Genetics, 2017.
DOI for Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage Download full text (pdf) of Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
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Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features
Part of BMC Medical Genetics, 2017.
DOI for Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features Download full text (pdf) of Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features
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Resolution of infantile intestinal pseudo-obstruction in a boy
Part of Journal of Pediatric Surgery Case Reports, p. 28-34, 2017.
DOI for Resolution of infantile intestinal pseudo-obstruction in a boy Download full text (pdf) of Resolution of infantile intestinal pseudo-obstruction in a boy
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SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
Part of Scientific Reports, 2017.
DOI for SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. Download full text (pdf) of SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
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Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
Part of BMC Medical Genetics, 2016.
DOI for Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency Download full text (pdf) of Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
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Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions
Part of Stem Cell Research, p. 474-478, 2016.
DOI for Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions Download full text (pdf) of Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions
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Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities
Part of Journal of the Neurological Sciences, p. 105-111, 2016.
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LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
Part of Annals of Neurology, p. 412-25, 2015.
DOI for LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course Download full text (pdf) of LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
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Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage
Part of Stem Cells and Development, p. 2032-2040, 2015.
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MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Part of Journal of Medical Genetics, p. 195-202, 2015.
DOI for MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
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Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
Part of European Journal of Human Genetics, p. 1679-1683, 2015.
DOI for Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
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Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling
Part of Cellular Reprogramming, p. 327-337, 2015.
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Abolished InsP3R2 function inhibits sweat secretion in both humans and mice
Part of Journal of Clinical Investigation, p. 4773-4780, 2014.
DOI for Abolished InsP3R2 function inhibits sweat secretion in both humans and mice
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A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
Part of BMC Medical Genetics, p. 133-, 2014.
DOI for A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency Download full text (pdf) of A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
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Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
Part of PLOS ONE, p. e93607-, 2014.
DOI for Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis Download full text (pdf) of Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
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Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6
Part of The FASEB Journal, p. 2293-2305, 2014.
DOI for Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6
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Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
Part of European Journal of Human Genetics, p. 1180-1184, 2014.
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Recurrent GATA1 mutations in Diamond-Blackfan anaemia
Part of British Journal of Haematology, p. 949-951, 2014.
DOI for Recurrent GATA1 mutations in Diamond-Blackfan anaemia
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WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations
Part of American Journal of Medical Genetics. Part A, p. 353-359, 2014.
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Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
Part of Human Mutation, p. 1160-1171, 2013.
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Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation
Part of European Journal of Medical Genetics, p. 371-374, 2013.
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Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development
Part of Journal of Investigative Dermatology, p. 1990-1997, 2013.
DOI for Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development
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A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect
Part of EJD. European journal of dermatology, p. 464-466, 2012.
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Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder
Part of BMC Medical Genetics, p. 123-, 2012.
DOI for Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder Download full text (pdf) of Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder
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Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism
Part of Archives of Dermatological Research, p. 377-386, 2012.
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Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype
Part of American Journal of Medical Genetics. Part A, p. 1111-1117, 2012.
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Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12
Part of EJD. European journal of dermatology, p. 178-181, 2012.
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siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis
Part of PLOS ONE, p. e29471-, 2012.
DOI for siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis Download full text (pdf) of siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis
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Clinical utility gene card for: Diamond Blackfan anemia
Part of European Journal of Human Genetics, 2011.
DOI for Clinical utility gene card for: Diamond Blackfan anemia
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Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease
Part of Journal of Medical Genetics, p. 705-709, 2011.
DOI for Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease
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Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
Part of Neurogenetics, p. 65-72, 2011.
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Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes
Part of American Journal of Medical Genetics Part A, p. 1616-1622, 2011.
DOI for Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes
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Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia
Part of American Journal of Human Genetics, p. 852-860, 2011.
DOI for Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia
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Re-evaluation of the dysequilibrium syndrome
Part of Acta Neurologica Scandinavica, p. 28-33, 2011.
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Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family
Part of Pakistan journal of medical sciences print, p. 686-689, 2011.
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Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia
Part of Seminars in hematology (Print), p. 124-135, 2011.
DOI for Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia
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A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
Part of American Journal of Human Genetics, p. 126-137, 2010.
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A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis
Part of American Journal of Human Genetics, p. 596-603, 2010.
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Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
Part of EJD. European journal of dermatology, p. 443-446, 2010.
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Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers
Part of Muscle and Nerve, p. 751-757, 2010.
DOI for Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers
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Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity
Part of Journal of Molecular Medicine, p. 39-46, 2010.
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Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)
Part of Reproductive Biology and Endocrinology, p. 58-, 2010.
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Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia
Part of Blood Cells, Molecules & Diseases, p. 23-28, 2010.
DOI for Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia
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Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification
Part of American journal of medical genetics. Part B, Neuropsychiatric genetics, p. 280-285, 2010.
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Somatic Mosaicism for Chromosome X and Y Aneuploidies in Monozygotic Twins Heterozygous for Sickle Cell Disease Mutation
Part of American Journal of Medical Genetics. Part A, p. 2595-2598, 2010.
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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update
Part of Human Mutation, p. 1269-1279, 2010.
DOI for The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update
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A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
Part of American Journal of Medical Genetics, p. 380-386, 2009.
DOI for A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population Download full text (pdf) of A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
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A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
Part of American Journal of Medical Genetics, p. 380-386, 2009.
DOI for A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population Download full text (pdf) of A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent in the Swedish population
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Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene
Part of European Journal of Medical Genetics, p. 297-302, 2009.
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Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
Part of Pediatric Blood & Cancer, p. 1143-1146, 2009.