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Human Mutation|January 5, 2007
ZFHX1B mutations in patients with Mowat-Wilson syndromeFlorence Dastot-Le Moal, Meredith Wilson, David Mowat, et al.Human Mutation|September 8, 2011
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndromeAsma Chaoui, Yuli Watanabe, Renaud Touraine, et al.Human Mutation|February 4, 2010
Review and update of mutations causing Waardenburg syndromeVéronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, et al.Hemoglobin|January 26, 2012
Comparison of two known chromosomal rearrangements in the δβ-globin complex with identical DNA breakpoints but causing different Hb A(2) levelsElisabeth Saller, Kamran Moradkhani, Fabrizio Dutly, et al.Indian Journal of Human Genetics|September 30, 2011
Mowat-Wilson syndrome in a Moroccan consanguineous familyIlham Ratbi, Chafai Siham Elalaoui, Moal Florence Dastot-Le, et al.Human Genetics|March 4, 2005
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotypeJérôme Clain, Jacqueline Lehmann-Che, Emmanuelle Girodon, et al.American Journal of Medical Genetics. Part A|August 10, 2005
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutationJulie McGaughran, Stephen Sinnott, Florence Dastot-Le Moal, et al.Biochimica Et Biophysica Acta|February 13, 2008
CSN5 binds to misfolded CFTR and promotes its degradationGaëlle Tanguy, Loïc Drévillon, Nicole Arous, et al.Developmental Biology|May 3, 2006
Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte developmentLaure Stanchina, Viviane Baral, Fabienne Robert, et al.European Journal of Medical Genetics|September 29, 2012
Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortionsNarjes Guediche, Lucie Tosca, Marc Nouchy, et al.Pageof 7