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The Journal of Clinical Endocrinology and Metabolism|December 13, 2003
A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiencyT Tukel, O Uyguner, J Q Wei, et al.Journal of Medical Genetics|February 10, 2006
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndromeA Uzumcu, E E Norgett, A Dindar, et al.Cytogenetic and Genome Research|February 14, 2003
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphismsS A Boyadjiev, A B Chowdry, R E Shapiro, et al.Journal of Molecular Medicine (Berlin, Germany)|November 12, 2005
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndromeE Kalay, A P M de Brouwer, R Caylan, et al.Clinical Genetics|July 12, 2008
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11N Hilgert, F Alasti, N Dieltjens, et al.Clinical Genetics|March 13, 2016
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosisS Boppudi, N Bögershausen, H B Hove, et al.Human Genetics|April 10, 2013
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeJ C Czeschik, C Voigt, Y Alanay, et al.Journal of Medical Genetics|October 30, 2007
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populationsM Witsch-Baumgartner, I Schwentner, M Gruber, et al.Pageof 4