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American Journal of Human Genetics|May 22, 2004
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndromeHans Christian Hennies, Anita Rauch, Wenke Seifert, et al.Journal of Medical Genetics|March 29, 2011
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesisFanny Kortüm, Soma Das, Max Flindt, et al.Nature Genetics|January 24, 2009
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellumJuliane Najm, Denise Horn, Isabella Wimplinger, et al.Journal of Medical Genetics|October 24, 2006
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker, Katarina Lehmann, Anna Leana Schulz, et al.American Journal of Human Genetics|January 20, 2007
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeEva Klopocki, Harald Schulze, Gabriele Strauss, et al.Human Mutation|November 14, 2008
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, et al.Genome Research|September 3, 2013
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutationsDaniel M Ibrahim, Peter Hansen, Christian Rödelsperger, et al.European Journal of Medical Genetics|December 28, 2005
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classificationChristiane Tasse, Stefan Böhringer, Sven Fischer, et al.Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.European Journal of Human Genetics : EJHG|October 23, 2003
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypesSeval Türkmen, Gabriele Gillessen-Kaesbach, Peter Meinecke, et al.Pageof 17