Результати пошуку - Mathilde Huckert
- Показ 1 - 3 результатів із 3
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1
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations за авторством Muriel De La Dure‐Molla, Mickaël Quentric, Paulo Yamaguti, Ana-Carolina Acevedo, Alan J. Mighell, Miikka Vikkula, Mathilde Huckert, Ariane Berdal, Agnès Bloch‐Zupan
Опубліковано 2014Revisão -
2
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta за авторством Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued, Virginie Laugel-Haushalter, Véronique Geoffroy, Jean Muller, François Clauss, Megana Prasad, Frédéric Obry, Jean Louis Raymond, Marzena Switala, Yves Alembik, S. Soskin, Éric Mathieu, Joseph Hemmerlé, Jean‐Luc Weickert, Branka Dabovic, Daniel B. Rifkin, Annelies Dheedene, Eveline Boudin, Oana Caluseriu, Marie‐Claude Cholette, Ross McLeod, Reynaldo Antequera, Marie-Paule Gellé, Jean-Louis Coeuriot, L. F. Jacquelin, Isabelle Bailleul‐Forestier, Marie‐Cécile Manière, Wim Van Hul, Débora Romeo Bertola, Pascal Dollé, Alain Verloès, Geert Mortier, Hélène Dollfus, Agnès Bloch‐Zupan
Опубліковано 2015Artigo -
3
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations за авторством Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta
Опубліковано 2013Artigo
Інструменти для пошуку:
Пов'язані теми
Amelogenesis imperfecta
Biology
Dentistry
Enamel paint
Genetics
Medicine
Gene
Internal medicine
Kidney
Mutation
Nephrocalcinosis
Ameloblast
Amelogenesis
Anatomy
Dentinogenesis imperfecta
Dentition
Dermatology
Endocrinology
Exome sequencing
Hypodontia
Missense mutation
Nonsense mutation
Osteogenesis imperfecta
Pathology
Permanent teeth
Phenotype