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Journal of Medical Genetics|April 16, 1999
Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?A P Thomson, M Neugebauer, A FryerJournal of Medical Genetics|November 1, 1992
Minimal expression of myotonic dystrophy: a clinical and molecular analysisW Reardon, H G Harley, J D Brook, et al.Journal of Medical Genetics|November 1, 1992
Expansion of the myotonic dystrophy gene in Italian and Spanish patientsS Melchionda, A Cobo, M Gennarelli, et al.Journal of Medical Genetics|November 1, 1992
High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemiaM S Figueiredo, J E Dos Santos, F L Alberto, et al.Journal of Medical Genetics|November 1, 1992
Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease)G Wolff, A Mayerová, T F Wienker, et al.Journal of Medical Genetics|October 22, 2003
Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotypeM G de Silva, K Elliott, H-H Dahl, et al.Journal of Medical Genetics|October 22, 2003
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasiaM Ridanpää, L M Ward, S Rockas, et al.Journal of Medical Genetics|May 7, 2013
Upregulation of RCAN1 causes Down syndrome-like immune dysfunctionKatherine R Martin, Daniel Layton, Natalie Seach, et al.Journal of Medical Genetics|May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.Journal of Medical Genetics|June 1, 1990
Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian familyM Ferraro, G Scarton, M AmbrosiniPageof 649