R Grigorescu

Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

Jérôme Maluenda, Constance Manso, Loïc Quevarec et al. · The American Journal of Human Genetics · 2016 · 64 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi et al. · Journal of Medical Genetics · 2021 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

Bruno Donadille, Pascal D’anella, Martine Auclair et al. · Orphanet Journal of Rare Diseases · 2013 · 56 citations · Full text

Life Sciences, Endocrinology, Genetics +14

Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

Chloé Quēlin, Philippe Loget, Alain Verloès et al. · European Journal of Medical Genetics · 2011 · 46 citations

Medicine, Obstetrics, Pediatrics +11

Fetal death as a result of placental immune reconstitution inflammatory syndrome

Fabienne Caby, Delphine Lemercier, Aurore Coulomb et al. · Journal of Infection · 2010 · 14 citations

Life Sciences, Immunology, Obstetrics +14