Résultats de la recherche

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MSX2 Gene Duplication in a Patient with Eye Development Defects.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations
Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
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)]

Islandora displays