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JIMD Reports|November 6, 2013
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous FemalesS Dreha-Kulaczewski, V Kalscheuer, A Tzschach, et al.Kidney International|July 1, 1992
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndromeH J Smeets, J J Melenhorst, H H Lemmink, et al.Journal of Medical Genetics|May 5, 1999
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genesJ Wirth, H G Nothwang, S van der Maarel, et al.Proceedings of the National Academy of Sciences of the United States of America|March 17, 1999
The Opitz syndrome gene product, MID1, associates with microtubulesS Schweiger, J Foerster, T Lehmann, et al.Human Molecular Genetics|February 13, 2001
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15J Wirth, E Back, A Hüttenhofer, et al.Genomics|June 10, 1995
A high-resolution interval map of the q21 region of the human X chromosomeC Philippe, C Arnould, F Sloan, et al.American Journal of Medical Genetics|July 9, 1999
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical careG J Van Buggenhout, J C Trommelen, A Schoenmaker, et al.Human Genetics|February 1, 1994
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsiesE C Mariman, A A Gabreëls-Festen, S E van Beersum, et al.American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3L E Siderius, B C Hamel, H van Bokhoven, et al.International Journal of Andrology|November 29, 2007
Hypergonadotropic hypogonadism in a patient with inv ins (2;4)A Tzschach, C Ramel, A Kron, et al.Pageof 21