par Windpassinger, Christian;Piard, Juliette;Bonnard, Carine;Alfadhel, Majid;Lim, Shuhui;Bisteau, Xavier 
;Blouin, Stéphane;Ali, Nur'Ain B;Ng, Alvin Yu Jin;Lu, Hao;Tohari, Sumanty;Talib, Zakiah SZA;van Hul, Noémi;Caldez, Matias MJ;Van Maldergem, Lionel;Yigit, Gökhan;Kayserili, Hulya;Youssef, Sameh A;Coppola, Vincenzo;de Bruin, Alain;Tessarollo, Lino;Choi, Hyungwon;Rupp, Verena;Roetzer, Katharina;Roschger, Paul;Klaushofer, Klaus;Altmüller, Janine;Roy, Sudipto;Venkatesh, Byrappa;Ganger, Rudolf;Grill, Franz;Ben Chehida, Farid;Wollnik, Bernd;Altunoglu, Umut;Al Kaissi, Ali;Reversade, Bruno;Kaldis, Philipp
Référence American journal of human genetics, 101, 3, page (391-403)
Publication Publié, 2017-09
;Blouin, Stéphane;Ali, Nur'Ain B;Ng, Alvin Yu Jin;Lu, Hao;Tohari, Sumanty;Talib, Zakiah SZA;van Hul, Noémi;Caldez, Matias MJ;Van Maldergem, Lionel;Yigit, Gökhan;Kayserili, Hulya;Youssef, Sameh A;Coppola, Vincenzo;de Bruin, Alain;Tessarollo, Lino;Choi, Hyungwon;Rupp, Verena;Roetzer, Katharina;Roschger, Paul;Klaushofer, Klaus;Altmüller, Janine;Roy, Sudipto;Venkatesh, Byrappa;Ganger, Rudolf;Grill, Franz;Ben Chehida, Farid;Wollnik, Bernd;Altunoglu, Umut;Al Kaissi, Ali;Reversade, Bruno;Kaldis, PhilippRéférence American journal of human genetics, 101, 3, page (391-403)
Publication Publié, 2017-09
Article révisé par les pairs
| Titre: |
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| Auteur: | Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, Zakiah SZA; van Hul, Noémi; Caldez, Matias MJ; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hulya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp |
| Informations sur la publication: | American journal of human genetics, 101, 3, page (391-403) |
| Statut de publication: | Publié, 2017-09 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Génétique clinique | |
| Biologie | |
| Biologie moléculaire | |
| Biologie cellulaire | |
| Mots-clés: | Al Kaissi syndrome knockout mice |
| CDK10 | |
| ETS2 | |
| cilia | |
| congenital disorder | |
| growth retardation | |
| metabolism | |
| spine malformation | |
| MeSH keywords: | Animals |
| Cell Cycle | |
| Cell Proliferation | |
| Cells, Cultured | |
| Child | |
| Child, Preschool | |
| Cilia -- metabolism -- pathology | |
| Cyclin-Dependent Kinases -- genetics -- physiology | |
| Developmental Disabilities -- genetics -- pathology | |
| Embryo, Mammalian -- metabolism -- pathology | |
| Female | |
| Fibroblasts -- metabolism -- pathology | |
| Growth Disorders -- genetics -- pathology | |
| Humans | |
| Infant | |
| Male | |
| Mice | |
| Mice, Knockout | |
| Mutation | |
| Pedigree | |
| Phosphorylation | |
| Signal Transduction | |
| Spine -- abnormalities -- metabolism -- pathology | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0002-9297 |
| info:doi/10.1016/j.ajhg.2017.08.003 | |
| info:pii/S0002-9297(17)30325-7 | |
| info:pmid/28886341 | |
| PMC5591019 |
