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American Journal of Human Genetics|April 15, 2008
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephalyRikke S Møller, Sabine Kübart, Maria Hoeltzenbein, et al.
European Journal of Human Genetics : EJHG|May 5, 2005
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndromeIsabella Borg, Kristine Freude, Sabine Kübart, et al.
Neurogenetics|October 2, 2009
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardationGinevra Zanni, Hilde van Esch, Anissa Bensalem, et al.
Human Mutation|October 23, 2009
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exonLuciana Musante, Stella-Amrei Kunde, Tina O Sulistio, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11Andreas Tzschach, Anne-Marie Bisgaard, Maria Kirchhoff, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndromeLuciana Musante, Hans G Kehl, Frank Majewski, et al.
American Journal of Human Genetics|October 23, 2004
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationJiong Tao, Hilde Van Esch, M Hagedorn-Greiwe, et al.
Molecular Genetics & Genomic Medicine|July 28, 2020
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disabilitySepideh Mehvari, Farzaneh Larti, Hao Hu, et al.
Human Genetics|June 20, 2006
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndromeBartlomiej Budny, Wei Chen, Heymut Omran, et al.
European Journal of Human Genetics : EJHG|September 14, 2006
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11Lars Riff Jensen, Steffen Lenzner, Bettina Moser, et al.
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