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Clinical Dysmorphology|October 1, 1993
The Peters'-Plus syndrome: description of 16 patients and review of the literatureR C Hennekam, M J Van Schooneveld, H H Ardinger, et al.European Journal of Human Genetics : EJHG|November 1, 2007
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylationE Morava, D J Lefeber, Z Urban, et al.Human Molecular Genetics|November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephalyL Nanni, J E Ming, M Bocian, et al.Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, et al.Human Molecular Genetics|August 11, 1999
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndromeM Kalff-Suske, A Wild, J Topp, et al.Clinical Genetics|November 29, 2007
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz, B Albrecht, C Arici, et al.American Journal of Human Genetics|June 23, 1998
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosisK Buiting, B Dittrich, S Gross, et al.Neurology|August 1, 2007
Location and type of mutation in the LIS1 gene do not predict phenotypic severityG Uyanik, D J Morris-Rosendahl, J Stiegler, et al.American Journal of Human Genetics|December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and IIIH J Lüdecke, J Schaper, P Meinecke, et al.Pageof 8