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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
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Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory Passemard, Sandrine; Verloes, Alain; Billette de Villemeur, Thierry; Boespflug-Tanguy, Odile; ... Schaer, Marie 2016
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NBEA: Developmental disease gene with early generalized epilepsy phenotypes Mulhern, Maureen S; Stumpel, Constance; Stong, Nicholas; Brunner, Han G; ... Sands, Tristan T 2018
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Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort Fouquet, Cyrielle; Le Rouzic, Marie-Amelyne; Leblanc, Thierry; Fouyssac, Fanny; ... Ducassou, Stephane 2019