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Clinical Genetics|May 1, 1975
Neonatal neurofibromatosis: unusual manifestations with malignant clinical courseN Apter, J Chemke, N Hurwitz, et al.
Clinical Genetics|May 1, 1975
Absence of differences in platelet dihydroxyphenylalanine (dopa) oxidase polymorphism in health and Duchenne's muscular dystrophyI Pacold, J Morgan, L Cohen
Clinical Genetics|April 1, 1994
Partial trisomy and monosomy 8p due to inversion duplicationJ J Engelen, C E de Die-Smulders, J P Fryns, et al.
Clinical Genetics|October 1, 1977
Genetic study of hyperlipoproteinaemia types IV and VJ François, F Lentini, P Hoste, et al.
Clinical Genetics|October 1, 1977
A family with syndactyly type II (synpolydactyly)M A Ridler, R Laxova, K Dewhurst, et al.
Clinical Genetics|September 27, 2014
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patientsG Pasqualim, M G Ribeiro, G G G da Fonseca, et al.
Clinical Genetics|September 17, 2014
Detecting somatic mosaicism: considerations and clinical implicationsA S A Cohen, S L Wilson, J Trinh, et al.
Clinical Genetics|January 1, 1989
The motivation of at-risk individuals and their partners in deciding for or against predictive testing for Huntington's diseaseG Evers-Kiebooms, A Swerts, J J Cassiman, et al.
Clinical Genetics|September 17, 2014
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinomaK A W Wadt, L G Aoude, P Johansson, et al.
Clinical Genetics|January 16, 2015
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tonguesJodi Warman Chardon, A C Smith, J Woulfe, et al.
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