Search Results - Huckert, Mathilde

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome by Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Stoetzel, Corinne, Muller, Jean, Flori, Elisabeth, Laugel, Vincent, Manière, Marie-Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès

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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations by de la Dure-Molla, Muriel, Quentric, Mickael, Yamaguti, Paulo Marcio, Acevedo, Ana-Carolina, Mighell, Alan J, Vikkula, Miikka, Huckert, Mathilde, Berdal, Ariane, Bloch-Zupan, Agnes

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Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta by Gasse, Barbara, Prasad, Megana, Delgado, Sidney, Huckert, Mathilde, Kawczynski, Marzena, Garret-Bernardin, Annelyse, Lopez-Cazaux, Serena, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Stoetzel, Corinne, Bloch-Zupan, Agnès, Sire, Jean-Yves

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A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta by Laugel-Haushalter, Virginie, Bär, Séverine, Schaefer, Elise, Stoetzel, Corinne, Geoffroy, Véronique, Alembik, Yves, Kharouf, Naji, Huckert, Mathilde, Hamm, Pauline, Hemmerlé, Joseph, Manière, Marie-Cécile, Friant, Sylvie, Dollfus, Hélène, Bloch-Zupan, Agnès

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Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar by Bloch-Zupan, Agnès, Huckert, Mathilde, Stoetzel, Corinne, Meyer, Julia, Geoffroy, Véronique, Razafindrakoto, Rabisoa W., Ralison, Saholy N., Randrianaivo, Jean-Claude, Ralison, Georgette, Andriamasinoro, Rija O., Ramanampamaharana, Rija H., Randrianazary, Solofomanantsoa E., Ralimanana, Louise H., Richard, Béatrice, Gorry, Philippe, Manière, Marie-Cécile, Rasoamananjara, Jeanne A., Rakoto Alson, Simone, Dollfus, Hélène

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Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar by Bloch-Zupan, Agnès, Huckert, Mathilde, Stoetzel, Corinne, Meyer, Julia, Geoffroy, Véronique, Razafindrakoto, Rabisoa W., Ralison, Saholy N., Randrianaivo, Jean-Claude, Ralison, Georgette, Andriamasinoro, Rija O., Ramanampamaharana, Rija H., Randrianazary, Solofomanantsoa E., Ralimanana, Louise H., Richard, Béatrice, Gorry, Philippe, Manière, Marie-Cécile, Rasoamananjara, Jeanne A., Rakoto Alson, Simone, Dollfus, Hélène

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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta by Huckert, Mathilde, Stoetzel, Corinne, Morkmued, Supawich, Laugel-Haushalter, Virginie, Geoffroy, Véronique, Muller, Jean, Clauss, François, Prasad, Megana K., Obry, Frédéric, Raymond, Jean Louis, Switala, Marzena, Alembik, Yves, Soskin, Sylvie, Mathieu, Eric, Hemmerlé, Joseph, Weickert, Jean-Luc, Dabovic, Branka Brukner, Rifkin, Daniel B., Dheedene, Annelies, Boudin, Eveline, Caluseriu, Oana, Cholette, Marie-Claude, Mcleod, Ross, Antequera, Reynaldo, Gellé, Marie-Paule, Coeuriot, Jean-Louis, Jacquelin, Louis-Frédéric, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Van Hul, Wim, Bertola, Debora, Dollé, Pascal, Verloes, Alain, Mortier, Geert, Dollfus, Hélène, Bloch-Zupan, Agnès

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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations by Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P. Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert

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