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American Journal of Medical Genetics|March 14, 2002
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B geneChristiane Zweier, Beate Albrecht, Beate Mitulla, et al.American Journal of Medical Genetics. Part A|December 12, 2002
First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16Heike Starke, Beate Mitulla, Angela Nietzel, et al.Annals of Human Genetics|April 7, 2009
New mutations of EXT1 and EXT2 genes in German patients with Multiple OsteochondromasWolfram Heinritz, Ulrike Hüffmeier, Sibylle Strenge, et al.American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33Sabine Walter, Klaus Sandig, Georg K Hinkel, et al.American Journal of Medical Genetics. Part A|May 11, 2005
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysisPeter N Robinson, Luitgard M Neumann, Stephanie Demuth, 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 Genetics|September 19, 2003
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classificationHeike Starke, Angela Nietzel, Anja Weise, et al.Pageof 1