Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hugo Moisset"'
Autor:
Nancy Vegas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi‐Ceide, Nancy M. Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Chung, Nicole Revencu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. Phillips, Linda Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter Kroisel, Tiong Y. Tan, Alex Henderson, Paulien Terhal, Lina Basel‐Salmon, Adila Alkindy, Susan M. White, Maria R. Passos‐Bueno, Véronique Pingault, Loïc De Pontual, Jeanne Amiel
Publikováno v:
Human Mutation, 43(5), 582-594. Wiley
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
HUMAN MUTATION
Human mutation, Vol. 43, no.5, p. 582-594 (2022)
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, N M, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, E J, Papsin, B C, Phillips, J H, Jakobsen, L, Le Tanno, P, Thévenon, J, McGaughran, J, Gerkes, E H, Leoni, C, Kroisel, P, Tan, T Y, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, S M, Passos-Bueno, M R, Pingault, V, De Pontual, L & Amiel, J 2022, ' Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases ', Human Mutation, vol. 43, no. 5, pp. 582-594 . https://doi.org/10.1002/humu.24349
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
HUMAN MUTATION
Human mutation, Vol. 43, no.5, p. 582-594 (2022)
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, N M, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, E J, Papsin, B C, Phillips, J H, Jakobsen, L, Le Tanno, P, Thévenon, J, McGaughran, J, Gerkes, E H, Leoni, C, Kroisel, P, Tan, T Y, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, S M, Passos-Bueno, M R, Pingault, V, De Pontual, L & Amiel, J 2022, ' Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases ', Human Mutation, vol. 43, no. 5, pp. 582-594 . https://doi.org/10.1002/humu.24349
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::661f735be3403039ebcf14eb38e4c5e2
https://research.rug.nl/en/publications/388c7421-7f5d-468c-9b09-d7578382d0fa
https://research.rug.nl/en/publications/388c7421-7f5d-468c-9b09-d7578382d0fa
Autor:
Marthe Vilotte, Patrick Calvas, Arnold Munnich, Nicolas Chassaing, Olivier Roche, Akihiko Tawara, Josseline Kaplan, Antoine Guilloux, Alain Regnier, Jean-Yves Douet, Arturo Ramirez-Miranda, Christine Bole-Feysot, Elfride De Baere, Hannah Verdin, Bruno Passet, Yusuke Nakamura, Juan Carlos Zenteno, Hiroyuki Kondo, Masaru Iwai, Ken Yamamoto, Toshihiro Tanaka, Sylvie Gerber, Jean-Michel Rozet, Jean-Luc Vilotte, Wataru Kimura, Lucas Fares-Taie, Isabelle Raymond-Letron, Hugo Moisset, Sylvie Odent
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. 〈10.1016/j.ajhg.2015.01.014〉
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. 〈10.1016/j.ajhg.2015.01.014〉
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
International audience; Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99149e10b70e92d38707142040f9a606
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134461/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134461/document