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Nature Genetics|February 1, 1995
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypesP Rutland, L J Pulleyn, W Reardon, et al.Nature Genetics|May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisD J Shears, H J Vassal, F R Goodman, et al.Irish Journal of Medical Science|June 4, 2008
Pregnancy and perinatal outcomes after assisted reproduction: a comparative studyC Allen, S Bowdin, R F Harrison, et al.Nature Genetics|November 1, 1994
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromeM Muenke, U Schell, A Hehr, et al.Human Molecular Genetics|November 1, 1995
The mutational spectrum in Waardenburg syndromeM Tassabehji, V E Newton, X Z Liu, et al.Clinical Dysmorphology|August 5, 1998
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six casesM M Lees, P Hodgkins, W Reardon, et al.Human Molecular Genetics|August 1, 1997
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15qF V Elmslie, M Rees, M P Williamson, et al.Nature|February 6, 1992
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophyH G Harley, J D Brook, S A Rundle, et al.Human Reproduction (Oxford, England)|December 20, 2005
Assisted reproductive therapies and imprinting disorders--a preliminary British surveyA G Sutcliffe, C J Peters, S Bowdin, et al.Genomics|December 1, 1992
Localization of two genes for Usher syndrome type I to chromosome 11R J Smith, E C Lee, W J Kimberling, et al.Pageof 16