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Human Molecular Genetics|January 1, 1997
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2M Oldridge, P W Lunt, E H Zackai, et al.Journal of Medical Genetics|June 21, 2005
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 geneL Van Maldergem, H A Siitonen, N Jalkh, et al.American Journal of Human Genetics|March 3, 1999
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneP L Tavormina, G A Bellus, M K Webster, et al.Clinical Genetics|April 29, 2005
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephalyF S Jehee, D Johnson, L G Alonso, et al.Genomics|May 20, 1999
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23S A Boyadjiev, E W Jabs, M LaBuda, et al.Proceedings of the National Academy of Sciences of the United States of America|June 24, 1998
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1J H Cho, D L Nicolae, L H Gold, et al.Journal of Medical Genetics|April 16, 2005
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancerT Frebourg, C Oliveira, P Hochain, et al.Human Molecular Genetics|July 27, 2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere, M J Dixon, K W Small, et al.Human Genetics|September 6, 2006
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populationsT H Beaty, J B Hetmanski, M D Fallin, et al.Pageof 11