Publikationen Abt. Molekulare Humangenetik (H.-Hilger Ropers)
Zeitschriftenartikel (30)
1.
Zeitschriftenartikel
110 (10), S. 1787 - 1803 (2023)
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. The American Journal of Human Genetics 2.
Zeitschriftenartikel
Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide. Journal of the American Medical Informatics Association, ocad061 (2023)
3.
Zeitschriftenartikel
8, a006210 (2022)
Rare diseases: human genome research is coming home. Cold Spring Harbor Molecular Case Studies 4.
Zeitschriftenartikel
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 5.
Zeitschriftenartikel
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 6.
Zeitschriftenartikel
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 7.
Zeitschriftenartikel
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 8.
Zeitschriftenartikel
24 (7), S. 1027 - 1039 (2019)
Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 9.
Zeitschriftenartikel
14 (4), e0215618 (2019)
VarWatch-A stand-alone software tool for variant matching. PLoS One 10.
Zeitschriftenartikel
179 (1), S. 13 - 19 (2019)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A