Publikationen Abt. Molekulare Humangenetik (H.-Hilger Ropers)
Zeitschriftenartikel (23)
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1.ZeitschriftenartikelGPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 179 (1), S. 13 - 19 (2019)
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2.ZeitschriftenartikelEffect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 95 (1), S. 151 - 159 (2019)
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3.ZeitschriftenartikelCNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Am J Med Genet B Neuropsychiatr Genet 177 (8), S. 691 - 699 (2018)
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4.ZeitschriftenartikelBiallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet 27 (18), S. 3177 - 3188 (2018)
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5.ZeitschriftenartikelPathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 2018 (2018)
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6.ZeitschriftenartikelDe novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 23 (2), S. 222 - 230 (2018)
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7.ZeitschriftenartikelGenetics of intellectual disability in consanguineous families. Molecular Psychiatry 24 (7) (2018)
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8.ZeitschriftenartikelA mouse model for intellectual disability caused by mutations in the X-linked 2'Omethyltransferase Ftsj1 gene. Biochim Biophys Acta Mol Basis Dis, S0925-4439(18)30497-6 (2018)
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9.ZeitschriftenartikelHomozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. The American Journal of Human Genetics 101 (3), S. 428 - 440 (2017)
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10.ZeitschriftenartikelMutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Human Mutations 38 (6), S. 621 - 636 (2017)