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European Journal of Medical Genetics|December 28, 2005
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)Ph Debeer, H Van Esch, C Huysmans, et al.Genetic Counseling (Geneva, Switzerland)|May 3, 2001
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotypeG J Van Buggenhout, J M Trijbels, R Wevers, et al.American Journal of Human Genetics|September 14, 2000
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in malesI Meloni, M Bruttini, I Longo, et al.Annales De Genetique|February 13, 2001
Cryptic translocation t(5;18) in familial mental retardationA Vogels, K Devriendt, J R Vermeesch, et al.American Journal of Human Genetics|March 1, 1997
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenitaK Devriendt, G Matthijs, E Legius, et al.Journal of Medical Genetics|July 1, 1996
Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISHJ J Engelen, W J Loots, J C Albrechts, et al.Annals of Neurology|November 1, 1996
Clinical and molecular genetic features of congenital spinal muscular atrophyK Devriendt, M Lammens, E Schollen, et al.Genomics|January 20, 1995
Cloning, characterization, and chromosomal localization to 4p16 of the human gene (LRPAP1) coding for the alpha 2-macroglobulin receptor-associated protein and structural comparison with the murine gene coding for the 44-kDa heparin-binding proteinF Van Leuven, C Hilliker, L Serneels, et al.Nature Genetics|January 23, 1999
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndromeP B Munroe, R O Olgunturk, J P Fryns, et al.Journal of Medical Genetics|April 1, 1994
Genetic heterogeneity in Rieger eye malformationE Legius, C E de Die-Smulders, F Verbraak, et al.Pageof 89