Showing results (1001-1010 of 7,173) with videos related to
Sort By:
Pageof 718
Clinical Genetics|January 1, 1994
A constitutional mutation within the retinoblastoma gene detected by PFGEM Janson, M NordenskjöldClinical Genetics|November 15, 2005
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's diseaseG Gromadzka, H H-J Schmidt, J Genschel, et al.Clinical Genetics|November 15, 2005
Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndromeK Cederquist, M Emanuelsson, F Wiklund, et al.Clinical Genetics|November 26, 2009
Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasiaE L Silveira, R H Elnecave, E P dos Santos, et al.Clinical Genetics|November 26, 2009
Phenotype and genotype in females with POU3F4 mutationsS Marlin, M P Moizard, A David, et al.Clinical Genetics|January 11, 1992
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methodsM M Cohen, S KreiborgClinical Genetics|January 1, 1992
Fragile site Xq27.3 in a family without mental retardationD R Romain, C J ChapmanClinical Genetics|January 1, 1992
On the variable expression of the Brachmann-de Lange syndromeC de Die-Smulders, P Theunissen, C Schrander-Stumpel, et al.Clinical Genetics|May 1, 1994
The apolipoprotein B signal peptide insertion/deletion polymorphism is not associated with myocardial infarction in NorwayM Bøhn, A Bakken, J Erikssen, et al.Clinical Genetics|January 1, 1982
Alpha-1-antitrypsin protease inhibitor (Pi) phenotypes in Down's syndrome patients and their parentsL Bufton, R E Magenis, E W LovrienPageof 718