檢索結果 - Elise Schaefer

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome 由 Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller

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Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol 由 Nhat Minh Do, Pierre Klienkoff, Anne de Saint Martin, Alexandra Jimenez-Armijo, Elise Schaefer, Gaétan Caravello, Lucas Geyer, Sarah Baer, Laurent Marcoux, François Clauss, Agnès Bloch-Zupan

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Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort 由 Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Jamal Ghoumid, Annick Toutain, Klaus Dieterich, Isabelle Marey, Brigitte Gilbert-Dussardier, Gwenaël Le Guyader, Christine Francannet, Elise Schaefer, Laurence Perrin, Mathilde Nizon, Claire Beneteau, David Genevieve, Marjolaine Willems, Laurence Faivre, Marianne Grimaldi, Judith Melki, Radka Stoeva, Audrey Putoux, Linda Pons, Karelle Benistan, Jeanne Amiel, Véronique Abadie

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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress 由 Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus

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Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies 由 Bérénice Hebrard, Marie-Lise Babonneau, Philippe Charron, Emilie Consolino, Benjamin Dauriat, Delphine Dupin-Deguine, Dominique Fargeaud, Agnès Farrugia, Anna-Gaëlle Giguet-Valard, Damien Guijarro, Jocelyn Inamo, Julien Jeanneteau, Jean-Michaël Mazzella, Claire-Cécile Michon, Gilles Millat, Frédéric Mouquet, Silvia Oghina, Yann Pereon, Vianney Poinsignon, Julie Pompougnac, Julie Proukhnitzky, Elise Schaefer, Franck Sturtz, Mathilde Trosdorf, Anne Auguste, Giorgia Canali, Alexandre Combes, Benoît Funalot, Thibaud Damy

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Evaluation of the contribution of trio-exome sequencing in selected prenatal indications 由 Manon Chretien, Julien Osouf, Carine Abel, Alexandra Afenjar, Tania Attie-Bitach, Elise Brischoux-Boucher, Lydie Burglen, Nadège Calmels, Nicolas Chassaing, Thomas Courtin, Julian Delanne, Martine Doco-Fenzy, Martine Doco-Fenzy, Christèle Dubourg, Benjamin Durand, Salima El Chehadeh, Laurence Faivre, Aurore Garde, Emmanuelle Ginglinger, Virginie Haushalter, Damien Haye, Solveig Heide, Laurence Heidet, Laurence Heidet, Delphine Heron, Clémence Jacquin, Laetitia Lambert, Laetitia Lambert, Jean-Baptiste Lamouche, Vincent Laugel, Antony Le Bechec, Daphné Lehalle, Laurence Michel-Calemard, Edgar Montoya Ramirez, Jean Muller, Jean Muller, Jean Muller, Sylvie Odent, Olivier Patat, Juliette Piard, Juliette Piard, Céline Poirsier, Audrey Putoux, Chloé Quelin, Caroline Racine, Caroline Racine, Nicolas Sananes, Nicolas Sananes, Audrey Schalk, Sophie Scheidecker, Sophie Scheidecker, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Stéphanie Valence, Anne-Sophie Weingertner, Anne-Sophie Weingertner, Justine Wourms, Hélène Dollfus, Hélène Dollfus, Bénédicte Gerard, Caroline Schluth-Bolard, Caroline Schluth-Bolard, Elise Schaefer, Elise Schaefer

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The different clinical facets of SYN1-related neurodevelopmental disorders 由 Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Laurent Villard, Cyril Goizet, Cyril Goizet, Cyril Goizet, Cécile Courdier, Cécile Courdier, Cécile Courdier, Allan Bayat, Allan Bayat, Allan Bayat, Alessandra Rossi, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Daphné Lehalle, Marjolaine Willems, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Jamal Ghoumid, Roseline Caumes, Roseline Caumes, Thomas Smol, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Frank J. Kaiser, Laure Mazzola, Laure Mazzola, Philippe Convers, Philippe Convers, Laurine Perrin, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Gert Wiegand, Gert Wiegand, Andrea Accogli, Andrea Accogli, Francesco Brancati, Francesco Brancati, Fabio Benfenati, Fabio Benfenati, Nicolas Chatron, Nicolas Chatron, David Lewis-Smith, David Lewis-Smith, Rhys H. Thomas, Rhys H. Thomas, Federico Zara, Federico Zara, Pasquale Striano, Pasquale Striano, Gaetan Lesca, Gaetan Lesca, Christel Depienne

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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification 由 Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Tristan Rey, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Isaac Maximiliano Bugueno, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Magali Hernandez, Mathilde Huckert, Bertand Isidor, Clara Joseph-Beaudin, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Serena Lopez, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Emmanuelle Noirrit, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Corinne Tardieu, Béatrice Thivichon-Prince, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

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