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Zeitschriftenartikel (196)
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1.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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2.ZeitschriftenartikelPathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry (2018)
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3.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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4.ZeitschriftenartikelGenetics of intellectual disability in consanguineous families. Molecular Psychiatry (2018)
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5.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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6.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)
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7.ZeitschriftenartikelHomozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics (2017)
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8.ZeitschriftenartikelKlüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). European journal of human genetics 25 (2), S. 253 - 256 (2017)
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9.ZeitschriftenartikelMissense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European journal of human genetics 24 (3), S. 392 - 399 (2016)
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10.ZeitschriftenartikelBOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS Genetics 12 (5), e1006022 (2016)
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11.ZeitschriftenartikelHomozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife 5, e16078 (2016)
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12.ZeitschriftenartikelX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 21 (1), S. 133 - 148 (2016)
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13.ZeitschriftenartikelPenetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 58 (12), S. 715 - 718 (2015)
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14.ZeitschriftenartikelMutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 24 (20), S. 5697 - 5710 (2015)
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15.ZeitschriftenartikelRedefining the MED13L syndrome. European journal of human genetics 23 (10), S. 1308 - 1317 (2015)
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16.ZeitschriftenartikelIntelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 23 (10), S. 1378 - 1383 (2015)
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17.ZeitschriftenartikelHomozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. The American Journal of Human Genetics 96 (3), S. 386 - 396 (2015)
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18.ZeitschriftenartikelA defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. European journal of human genetics 23 (3), S. 331 - 336 (2015)
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19.ZeitschriftenartikelNew evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Archives of Iranian Medicine 18 (3), S. 179 - 184 (2015)
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20.ZeitschriftenartikelThe Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. PLoS One 10 (8), e0129631 (2015)