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Clinical Genetics|September 4, 1998
Low frequency of RET mutations in Hirschsprung disease in SwedenP J Svensson, M L Molander, C Eng, et al.Pediatric Research|May 8, 1999
A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's diseaseP J Svensson, D Von Tell, M L Molander, et al.American Journal of Human Genetics|October 1, 1992
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type IZ P Zhang, M Lindstedt, G Falk, et al.Journal of Assisted Reproduction and Genetics|March 1, 1994
Complex genetic counseling and exclusion of Duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF)T H Bui, M Anvret, N Dahl, et al.Human Mutation|April 24, 1999
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. OnlineG Grigelioniené, L Hagenäs, O Eklöf, et al.Human Genetics|May 1, 1992
Genetic and blood coagulation characterization of "Swedish" families with von Willebrand's disease types I and III: new aspects of heredityM Anvret, M Blombäck, M Lindstedt, et al.Acta Neurologica Scandinavica|September 15, 2000
High suicidal ideation in persons testing for Huntington's diseaseT B Robins Wahlin, L Bäckman, A Lundin, et al.European Archives of Psychiatry and Clinical Neuroscience|January 1, 1994
Dopamine D1 receptor number--a sensitive PET marker for early brain degeneration in Huntington's diseaseG Sedvall, P Karlsson, A Lundin, et al.Human Genetics|April 1, 1991
Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutationsN Archidiacono, M Lerone, M Rocchi, et al.Human Genetics|January 1, 1990
A normal male with an inherited deletion of one exon within the DMD geneM Nordenskjöld, L Nicholson, L Edström, et al.Pageof 18