Résultats de la recherche

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(1 - 16 of 16)
MSX2 Gene Duplication in a Patient with Eye Development Defects.
Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Épidémiologie des fentes labio-palatines : expérience du Registre de malformations congénitales d’Alsace entre 1995 et 2006 [Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes