par Guerrini-Rousseau, Léa;Masliah-Planchon, Julien;Waszak, Sebastian S.M.;Alhopuro, Pia;Benusiglio, Patrick P.R.;Bourdeaut, Franck;Brecht, Ines Beatrice;Del Baldo, Giada;Dhanda, Sandeep Kumar;Garre, Maria Luisa;Gidding, Corrie C.E.M.;Hirsch, Steffen;Hoarau, Pauline;Jorgensen, Mette;Kratz, Christian;Lafay-Cousin, Lucie;Mastronuzzi, Angela;Pastorino, Lorenza;Pfister, Stefan Michael;Schroeder, Christopher;Smith, Miriam Jane;Vahteristo, Pia;Vibert, Roseline;Vilain, Catheline 
;Waespe, Nicolas;Winship, Ingrid I.M.;Evans, Gareth D.G.;Brugières, Laurence
Référence Journal of medical genetics, 108385
Publication Publié, 2022
;Waespe, Nicolas;Winship, Ingrid I.M.;Evans, Gareth D.G.;Brugières, LaurenceRéférence Journal of medical genetics, 108385
Publication Publié, 2022
Article révisé par les pairs
| Titre: |
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| Auteur: | Guerrini-Rousseau, Léa; Masliah-Planchon, Julien; Waszak, Sebastian S.M.; Alhopuro, Pia; Benusiglio, Patrick P.R.; Bourdeaut, Franck; Brecht, Ines Beatrice; Del Baldo, Giada; Dhanda, Sandeep Kumar; Garre, Maria Luisa; Gidding, Corrie C.E.M.; Hirsch, Steffen; Hoarau, Pauline; Jorgensen, Mette; Kratz, Christian; Lafay-Cousin, Lucie; Mastronuzzi, Angela; Pastorino, Lorenza; Pfister, Stefan Michael; Schroeder, Christopher; Smith, Miriam Jane; Vahteristo, Pia; Vibert, Roseline; Vilain, Catheline; Waespe, Nicolas; Winship, Ingrid I.M.; Evans, Gareth D.G.; Brugières, Laurence |
| Informations sur la publication: | Journal of medical genetics, 108385 |
| Statut de publication: | Publié, 2022 |
| Sujet CREF: | Biologie |
| Génétique clinique | |
| Mots-clés: | central nervous system diseases |
| congenital, hereditary, and neonatal diseases and abnormalities | |
| genetic counseling | |
| genetic predisposition to disease | |
| germ-line mutation | |
| Note générale: | SCOPUS: ar.j |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0022-2593 |
| info:doi/10.1136/jmedgenet-2021-108385 | |
| info:scp/85134762384 | |
| info:pmid/35768194 |
