학술논문
'학술논문'
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1~10
Academic Journal
Derrick, Christopher J; Szenker-Ravi, Emmanuelle; Santos-Ledo, Adrian; Alqahtani, Ahlam; Yusof, Amirah; Eley, Lorraine; Coleman, Alistair H L; Tohari, Sumanty; Ng, Alvin Yu-Jin; Venkatesh, Byrappa; Alharby, Essa; Mansard, Luke; Bonnet-Dupeyron, Marie-Noelle; Roux, Anne-Francoise; Vaché, Christel; Roume, Joëlle; Bouvagnet, Patrice; Almontashiri, Naif A M; Henderson, Deborah J; Reversade, Bruno
Human Molecular Genetics; 1/15/2024, Vol. 33 Issue 2, p150-169, 20p
Academic Journal
Vache, Christel; Faugere, Valerie; Baux, David; Mansard, Luke; Van Goethem, Charles; Dhaenens, Claire-Marie; Grunewald, Olivier; Audo, Isabelle; Zeitz, Christina; Meunier, Isabelle; Bocquet, Beatrice; Cossee, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Roux, Anne-Francoise
Periodical
Vaché, Christel; Faugère, Valérie; Baux, David; Mansard, Luke; Van Goethem, Charles; Dhaenens, Claire-Marie; Grunewald, Olivier; Audo, Isabelle; Zeitz, Christina; Meunier, Isabelle; Bocquet, Béatrice; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Roux, Anne-Françoise
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
Academic Journal
Vaché, Christel; Cubedo, Nicolas; Mansard, Luke; Sarniguet, Jérôme; Baux, David; Faugère, Valérie; Baudoin, Corinne; Moclyn, Melody; Touraine, Renaud; Lina-Granade, Geneviève; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Rossel, Mireille; Roux, Anne-Françoise
European Journal of Human Genetics. 31(7):834-840
Academic Journal
Derrick, Christopher J.; Szenker-Ravi, Emmanuelle; Santos-Ledo, Adrian; Alqahtani, Ahlam; Yusof, Amirah; Eley, Lorraine; Coleman, Alistair H. L.; Tohari, Sumanty; Ng, Alvin Yu-Jin; Venkatesh, Byrappa; Alharby, Essa; Mansard, Luke; Bonnet-Dupeyron, Marie-Noelle; Roux, Anne-Francoise; Vache, Christel; Roume, Joelle; Bouvagnet, Patrice; Almontashiri, Naif A. M.; Henderson, Deborah J.; Reversade, Bruno; Chaudhry, Bill
Periodical
Vaché, Christel; Cubedo, Nicolas; Mansard, Luke; Sarniguet, Jérôme; Baux, David; Faugère, Valérie; Baudoin, Corinne; Moclyn, Melody; Touraine, Renaud; Lina-Granade, Geneviève; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Rossel, Mireille; Roux, Anne-Françoise
European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-7, 7p
Periodical
Vaché, Christel; Baux, David; Bianchi, Julie; Baudoin, Corinne; Faugère, Valérie; Francannet, Christine; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne-Françoise
European Journal of Human Genetics: EJHG; January 2022, Vol. 30 Issue: 1 p34-41, 8p
Academic Journal
Mansard, Luke; Vaché, Christel; Bianchi, Julie; Baudoin, Corinne; Perthus, Isabelle; Isidor, Bertrand; Blanchet, Catherine; Baux, David; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne-Françoise
Academic Journal
McNeill, Alisdair; Iovino, Emanuela; Mansard, Luke; Vache, Christel; Baux, David; Bedoukian, Emma; Cox, Helen; Dean, John; Goudie, David; Kumar, Ajith; Newbury-Ecob, Ruth; Fallerini, Chiara; Renieri, Alessandra; Lopergolo, Diego; Mari, Francesca; Blanchet, Catherine; Willems, Marjolaine; Roux, Anne-Francoise; Pippucci, Tommaso; Delpire, Eric
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[AR] Vaché, Christel
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