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Brain : a Journal of Neurology|May 11, 2006
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutationsE Parrini, A Ramazzotti, W B Dobyns, et al.Clinical Genetics|May 31, 2008
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genesF H Menko, C M F Kneepkens, N de Leeuw, et al.European Journal of Human Genetics : EJHG|April 11, 2000
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneityJ L Blouin, M Meeks, U Radhakrishna, et al.Clinical Genetics|October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type IS Saal, L Faivre, Bernard Aral, et al.Human Molecular Genetics|April 4, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)D Y Nishimura, C C Searby, R Carmi, 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.Journal of Medical Genetics|October 4, 2002
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyL Van Maldergem, J Magré, T E Khallouf, 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.Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.Nature Genetics|August 2, 2001
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13J Magré, M Delépine, E Khallouf, et al.Pageof 10