Showing results (1241-1250 of 7,179) with videos related to
Sort By:
Pageof 718
Clinical Genetics|October 12, 2013
Genetics of hypertrophic cardiomyopathy in NorwayK E Berge, T P LerenClinical Genetics|October 15, 2013
Aminoacylase I deficiency due to ACY1 mRNA exon skippingL Ferri, S Funghini, A Fioravanti, et al.Clinical Genetics|February 1, 1978
Synthetic substrate beta-glucosidase activity in leukocytes: a reproducible method for the identification of patients and carriers of Gaucher's diseaseD A Wenger, C Clark, M Sattler, et al.Clinical Genetics|October 10, 2013
PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypesX-Y Chen, F Lu, Y-M Wang, et al.Clinical Genetics|April 23, 2013
High carrier frequency of 21-hydroxylase deficiency in CyprusA A P Phedonos, C Shammas, N Skordis, et al.Clinical Genetics|May 21, 2013
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndromeR G Coussa, E A Otto, H-Y Gee, et al.Clinical Genetics|June 25, 2013
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new familiesF Petit, A-S Jourdain, J Andrieux, et al.Clinical Genetics|June 27, 2013
Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 geneL Alías, M J Barceló, S Bernal, et al.Clinical Genetics|July 9, 2013
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in PortugalF V Ventura, P Leandro, A Luz, et al.Clinical Genetics|July 9, 2013
Molecular cytogenetics: recent developments and applications in cancerK Das, P TanPageof 718