Publikationen Abt. Molekulare Humangenetik (H.-Hilger Ropers)
Zeitschriftenartikel (28)
1.
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8, a006210 (2022)
Rare diseases: human genome research is coming home. Cold Spring Harbor Molecular Case Studies 2.
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48 (6), S. 478 - 489 (2020)
A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q. Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie 3.
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2020, S. 1 - 6 (2020)
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine 4.
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8 (10), e1418 (2020)
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine 5.
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24 (11), S. 1748 - 1768 (2019)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 6.
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24 (7), S. 1027 - 1039 (2019)
Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 7.
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14 (4), e0215618 (2019)
VarWatch-A stand-alone software tool for variant matching. PLoS One 8.
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179 (1), S. 13 - 19 (2019)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 9.
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95 (1), S. 151 - 159 (2019)
Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 10.
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177 (8), S. 691 - 699 (2018)
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Am J Med Genet B Neuropsychiatr Genet