Ngā hua rapu - Marie-Cécile Manière
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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases mā Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou, Sourour Mansour, Philippe Guigue, Sahben Masmoudi, Élodie Bal, Nicolas Chassaing, Marie‐Claire Vincent, Géraldine Viot, François Clauss, Marie‐Cécile Manière, Steve Toupenay, Martine Le Merrer, Stanislas Lyonnet, Valérie Cormier‐Daire, Jeanne Amiel, Laurence Faivre, Y. De Prost, Arnold Münnich, Jean‐Paul Bonnefont, Christine Bodemer, Asma Smahi
I whakaputaina 2010Artigo -
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A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement mā Sofia Douzgou, Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler‐Noreuil, Paul Kuentz, Grazia M.S. Mancini, Marie‐Cécile Manière, Víctor Martínez‐Glez, Victoria Parker, Robert K. Semple, Siddharth Srivastava, P. Vabres, Marie‐Claire Y. de Wit, John M. Graham, Jill Clayton‐Smith, Ghayda Mirzaa, Leslie G. Biesecker
I whakaputaina 2021Revisão -
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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification mā Agnès Bloch‐Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Muriel De La Dure‐Molla, Emmanuelle Noirrit‐Esclassan, Magali Hernandez, Clara Joseph-Beaudin, Séréna Lopez-Cazaux, C Tardieu, Béatrice Thivichon‐Prince, Taťjana Dostálová, Milan Maçek, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter
I whakaputaina 2023Artigo -
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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta mā 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
I whakaputaina 2015Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Medicine
Biology
Dentistry
Gene
Genetics
Amelogenesis imperfecta
Enamel paint
Pathology
Phenotype
Amelogenesis
Disease
Osteogenesis imperfecta
Alkaline phosphatase
Ameloblast
Anatomy
Biochemistry
Cohort
Computer science
Deciduous teeth
Dental enamel
Dentinogenesis imperfecta
Dentition
Early childhood caries
Ectodermal dysplasia
Enzyme
Etiology
Exome sequencing
Genetic heterogeneity
Genodermatosis
Genotype