Show items per page
Elements: 3
Page 1 on 1
 TitleAuthors / EditorsDate
add to browser selection
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge 2014
add to browser selection
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien 2016
add to browser selection
Time-based prospective memory in children and adolescents with 22q11.2 deletion syndrome Souchay, Céline; Dubourg, Lydia; Ballhausen, Nicola; Schneider, Maude; ... Eliez, Stéphan 2018