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Journal of Medical Genetics|October 4, 2011
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genesMohammad R Akbari, Shiyu Zhang, Isabel Fan, et al.Journal of Medical Genetics|September 1, 1991
Chromosome in situ suppression hybridisation in clinical cytogeneticsM A Hulten, C P Gould, A S Goldman, et al.Journal of Medical Genetics|September 1, 1991
Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, CanadaJ Daigneault, G Aubin, F Simard, et al.Journal of Medical Genetics|September 1, 1991
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?W Reardon, C M Hall, M J Dillon, et al.Journal of Medical Genetics|September 1, 1991
A new recessive syndrome of unusual facies and multiple structural abnormalitiesY Thakker, D DonnaiJournal of Medical Genetics|May 29, 2009
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome SurveyA Mehta, J T R Clarke, R Giugliani, et al.Journal of Medical Genetics|June 11, 2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)E A Otto, K Tory, M Attanasio, et al.Journal of Medical Genetics|June 24, 2009
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autismRavinesh A Kumar, Jyotsna Sudi, Timothy D Babatz, et al.Journal of Medical Genetics|June 26, 2009
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasiaM E Faughnan, V A Palda, G Garcia-Tsao, et al.Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.Pageof 649