Recherche - Université de Picardie Jules Verne Accéder directement au contenu

Filtrer vos résultats

7 Résultats
authFullName_s : M. Mathieu-Dramard

Implication of syndromic cleft genes in non syndromic forms : towards translational phenotypes ?

Bénédicte Demeer , M. Basha , O. Boute , M. Mathieu-Dramard , L. van Maldergem , et al.
European Journal of Human Genetics, 2018, 26 (S), pp.223-224
Article dans une revue hal-03598607v1

Enamel-renal syndrome: identification of two novel non-consanguinous families with mutations in FAM20A gene

F. Jobic , S. De Broca , R. Vargas-Poussou , L. Lichtenberger , Guillaume Jedraszak , et al.
European Journal of Human Genetics, 2019, 27 (1), pp.989-990
Article dans une revue hal-03606167v1

Cat-Eye Syndrome: Phenotype and Cytogenetic analyses of a cohort of 44 patients from an international collaborative study

G. Jedraszak , Florence Jobic , Noémie Celton , T. Dery , Marlène Gallet , et al.
European Journal of Human Genetics, 2018, 26 (S), pp.459-460
Article dans une revue hal-03565046v1

Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations

C. Schluth-Bolard , F. Diguet , P. A. Rollat-Farnier , J. Amiel , M. A. Belaud-Rotureau , et al.
European Journal of Human Genetics, 2018, 26 (S), pp.628-629
Article dans une revue hal-03600552v1

Precocious prenatal phenotype of BHLHA9 duplication: a case report

G. Morin , Noémie Celton , T. Dery , Marlène Gallet , M. Mathieu-Dramard , et al.
European Journal of Human Genetics, 2018, 26 (S), pp.221-222
Article dans une revue hal-03565047v1

Oliver-McFarlane syndrome: mutations of PNPLA6 and follow-up of 30 years in two brothers

G. Jedraszak , N. De Roux , F. Jobic , Rachel Desailloud , H. Bony , et al.
European Journal of Human Genetics, 2019, 27 (1), pp.373
Article dans une revue hal-03555795v1

New intragenic rearrangements in non-Finnish MULIBREY nanism

Florence Jobic , G. Morin , C. Vincent-Delorme , Estelle Cadet , Rosalie Cabry , et al.
European Journal of Human Genetics, 2018, 26 (Suppl 1), pp.487. ⟨10.1038/s41431-018-0247-7⟩
Article dans une revue hal-03549135v1