par Ray Das, Sankalita;Sullivan, Rosie;Ruegg, Mischa M.S.G.;Horsfield, Julia;Doran, Jordan;Poke, Gemma;de Vries, Nathalie;Duerinckx, Sarah 
;Lederer, Damien;Haniffa, Muzhirah;Keng, Wee Teik;Ch'ng, Gaik Siew;Parry, David D.A.;Jackson, Andrew A.P.;Sakamoto, Masamune;Matsumoto, Naomichi;Miyake, Noriko;Nabatame, Shin;Taniguchi, Hidetoshi;Wakeling, Emma L;Õunap, Katrin;Ilves, Pilvi;Mirzaa, Ghayda G.M.;Timms, Andrew;Pao, Emily;Aldinger, Kimberly K.A.;Dobyns, William Bill;Bohring, Axel;Behre, Beate;Calame, Daniel D.G.;Lupski, James J.R.;Pascual, Juan M.;Abramowicz, Marc ;Gimenez, Gregory;Bicknell, Louise L.S.
Référence American journal of human genetics, 112, 7, page (1722-1732)
Publication Publié, 2025-07-03
;Lederer, Damien;Haniffa, Muzhirah;Keng, Wee Teik;Ch'ng, Gaik Siew;Parry, David D.A.;Jackson, Andrew A.P.;Sakamoto, Masamune;Matsumoto, Naomichi;Miyake, Noriko;Nabatame, Shin;Taniguchi, Hidetoshi;Wakeling, Emma L;Õunap, Katrin;Ilves, Pilvi;Mirzaa, Ghayda G.M.;Timms, Andrew;Pao, Emily;Aldinger, Kimberly K.A.;Dobyns, William Bill;Bohring, Axel;Behre, Beate;Calame, Daniel D.G.;Lupski, James J.R.;Pascual, Juan M.;Abramowicz, Marc ;Gimenez, Gregory;Bicknell, Louise L.S.Référence American journal of human genetics, 112, 7, page (1722-1732)
Publication Publié, 2025-07-03
Article révisé par les pairs
| Titre: |
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| Auteur: | Ray Das, Sankalita; Sullivan, Rosie; Ruegg, Mischa M.S.G.; Horsfield, Julia; Doran, Jordan; Poke, Gemma; de Vries, Nathalie; Duerinckx, Sarah; Lederer, Damien; Haniffa, Muzhirah; Keng, Wee Teik; Ch'ng, Gaik Siew; Parry, David D.A.; Jackson, Andrew A.P.; Sakamoto, Masamune; Matsumoto, Naomichi; Miyake, Noriko; Nabatame, Shin; Taniguchi, Hidetoshi; Wakeling, Emma L; Õunap, Katrin; Ilves, Pilvi; Mirzaa, Ghayda G.M.; Timms, Andrew; Pao, Emily; Aldinger, Kimberly K.A.; Dobyns, William Bill; Bohring, Axel; Behre, Beate; Calame, Daniel D.G.; Lupski, James J.R.; Pascual, Juan M.; Abramowicz, Marc; Gimenez, Gregory; Bicknell, Louise L.S. |
| Informations sur la publication: | American journal of human genetics, 112, 7, page (1722-1732) |
| Statut de publication: | Publié, 2025-07-03 |
| Sujet CREF: | Biologie |
| Génétique clinique | |
| Mots-clés: | microcephaly |
| neurogenetics | |
| pontocerebellar hypoplasia | |
| spliceosome | |
| zebrafish | |
| Note générale: | SCOPUS: ar.j |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0002-9297 |
| info:doi/10.1016/j.ajhg.2025.05.013 | |
| info:pii/S0002929725002113 | |
| info:scp/105008430363 | |
| info:pmid/40857589 |
