Résultats de la recherche

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Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder
Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009
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
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