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Journal of Medical Genetics|September 26, 2022
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidenceAndrew Lee, Nasim Mavaddat, Alex Cunningham, et al.Journal of Medical Genetics|June 1, 1978
Acute myelogenous leukaemia in Hurler's syndromeK T Chen, R W McKenna, R J DesnickJournal of Medical Genetics|August 27, 1998
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23D R Mowat, G D Croaker, D T Cass, et al.Journal of Medical Genetics|August 27, 1998
Bony orbital morphology in neurofibromatosis type 1 (NF1)S C Kaste, E K PivnickJournal of Medical Genetics|August 27, 1998
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiencyD R Sjarif, R J Sinke, M Duran, et al.Journal of Medical Genetics|August 27, 1998
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index caseF Muller, M Dommergues, B Simon-Bouy, et al.Journal of Medical Genetics|August 27, 1998
Usher syndrome type III (USH3) linked to chromosome 3q in an Italian familyP Gasparini, A De Fazio, A I Croce, et al.Journal of Medical Genetics|August 27, 1998
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study GroupC Dumanchin, A Brice, D Campion, et al.Journal of Medical Genetics|August 27, 1998
Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian populationE Trabetti, V Cusin, G Malerba, et al.Journal of Medical Genetics|September 11, 1998
Medical complications of achondroplasia: a multicentre patient reviewA G Hunter, A Bankier, J G Rogers, et al.Pageof 649