Arama Sonuçları - Geneviève, David

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay Yazar: Amouroux, Cyril, Vincent, Marie, Blanchet, Patricia, Puechberty, Jacques, Schneider, Anouck, Chaze, Anne Marie, Girard, Manon, Tournaire, Magali, Jorgensen, Christian, Morin, Denis, Sarda, Pierre, Lefort, Geneviève, Geneviève, David

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability Yazar: Vincent, Marie, Collet, Corinne, Verloes, Alain, Lambert, Laetitia, Herlin, Christian, Blanchet, Catherine, Sanchez, Elodie, Drunat, Séverine, Vigneron, Jacqueline, Laplanche, Jean-Louis, Puechberty, Jacques, Sarda, Pierre, Geneviève, David

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling Yazar: Corsini, Carole, Gencik, Martin, Willems, Marjolaine, Decker, Eva, Sanchez, Elodie, Puechberty, Jacques, Schneider, Anouck, Girard, Manon, Edery, Patrick, Bretonnes, Patricia, Cottalorda, Jérôme, Lefort, Geneviève, Jeandel, Claire, Sarda, Pierre, Genevieve, David

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report Yazar: Yauy, Kevin, Schneider, Anouck, Ng, Bee Ling, Gaillard, Jean-Baptiste, Sati, Satish, Coubes, Christine, Wells, Constance, Tournaire, Magali, Guignard, Thomas, Bouret, Pauline, Geneviève, David, Puechberty, Jacques, Pellestor, Franck, Gatinois, Vincent

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives Yazar: Vande Perre, Pierre, Toledano, Daniel, Corsini, Carole, Escriba, Elsa, Laporte, Marine, Bertet, Helena, Yauy, Kevin, Toledano, Alain, Galibert, Virginie, Baudry, Karen, Clotet, Lucie, Million, Elodie, Picot, Marie‐Christine, Geneviève, David, Pujol, Pascal

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

The C20orf133 gene is disrupted in a patient with Kabuki syndrome Yazar: Maas, Nicole M C, Van de Putte, Tom, Melotte, Cindy, Francis, Annick, Schrander‐Stumpel, Constance T R M, Sanlaville, Damien, Genevieve, David, Lyonnet, Stanislas, Dimitrov, Boyan, Devriendt, Koenraad, Fryns, Jean‐Pierre, Vermeesch, Joris R

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

The C20orf133 gene is disrupted in a patient with Kabuki syndrome Yazar: Maas, Nicole M C, Van de Putte, Tom, Melotte, Cindy, Francis, Annick, Schrander-Stumpel, Constance T R M, Sanlaville, Damien, Genevieve, David, Lyonnet, Stanislas, Dimitrov, Boyan, Devriendt, Koenraad, Fryns, Jean-Pierre, Vermeesch, Joris R

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever Yazar: Cazeneuve, Cécile, Ajrapetyan, Hasmik, Papin, Stéphanie, Roudot-Thoraval, Françoise, Geneviève, David, Mndjoyan, Elizaveta, Papazian, Marina, Sarkisian, Ashot, Babloyan, Ara, Boissier, Brigitte, Duquesnoy, Philippe, Kouyoumdjian, Jean-Claude, Girodon-Boulandet, Emmanuelle, Grateau, Gilles, Sarkisian, Tamara, Amselem, Serge

Tam Metin Erişim Tam Metin Erişim

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III Yazar: Dagoneau, Nathalie, Goulet, Marie, Geneviève, David, Sznajer, Yves, Martinovic, Jelena, Smithson, Sarah, Huber, Céline, Baujat, Geneviève, Flori, Elisabeth, Tecco, Laura, Cavalcanti, Denise, Delezoide, Anne-Lise, Serre, Valérie, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes Yazar: Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine de, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique

Tam Metin Erişim Tam Metin Erişim

Reply to Salviati et al. Yazar: Sanlaville, Damien, Delnatte, Capucine, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, de Blois, Marie-Christine, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique

Tam Metin Erişim

Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation Yazar: Pujol, Pascal, Yauy, Kevin, Coffy, Amandine, Duforet-Frebourg, Nicolas, Gabteni, Sana, Daurès, Jean-Pierre, Penault Llorca, Frédérique, Thomas, Frédéric, Hughes, Kevin, Turnbull, Clare, Galibert, Virginie, Rideau, Chloé, Corsini, Carole, Collet, Laetitia, You, Benoit, Geneviève, David, Philippe, Nicolas

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome Yazar: Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C. J., Sistermans, Erik A., de Vries, Bert B. A., van Bokhoven, Hans

Tam Metin Erişim Tam Metin Erişim

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia Yazar: Cognet, Marie, Nougayrede, Agnés, Malan, Valérie, Callier, Patrick, Cretolle, Celia, Faivre, Laurence, Genevieve, David, Goldenberg, Alice, Heron, Delphine, Mercier, Sandra, Philip, Nicole, Sigaudy, Sabine, Verloes, Alain, Sarnacki, Sabine, Munnich, Arnold, Vekemans, Michel, Lyonnet, Stanislas, Etchevers, Heather, Amiel, Jeanne, Pontual, Loïc de

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans Yazar: de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munnich, Arnold, Vidigal, Joana Alves, Vekemans, Michel, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Ventura, Andrea, Amiel, Jeanne

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects Yazar: Poirier, Karine, Saillour, Yoann, Bahi-Buisson, Nadia, Jaglin, Xavier H., Fallet-Bianco, Catherine, Nabbout, Rima, Castelnau-Ptakhine, Laetitia, Roubertie, Agathe, Attie-Bitach, Tania, Desguerre, Isabelle, Genevieve, David, Barnerias, Christine, Keren, Boris, Lebrun, Nicolas, Boddaert, Nathalie, Encha-Razavi, Féréchté, Chelly, Jamel

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin Yazar: Khalifa, Olfa, Balandraud, Nathalie, Lambert, Nathalie, Auger, Isabelle, Roudier, Jean, Sénéchal, Audrey, Geneviève, David, Picard, Christophe, Lefranc, Gérard, Touitou, Isabelle, Mrenda, Bakridine M'Madi, Benedito, Cécilia, Pardoux, Etienne, Gagez, Anne-Laure, Pers, Yves-Marie, Jorgensen, Christian, Mahjoub, Touhami, Apparailly, Florence

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations Yazar: Gatinois, Vincent, Bigi, Nicole, Mousty, Eve, Chiesa, Jean, Musizzano, Yuri, Schneider, Anouck, Lefort, Geneviève, Pinson, Lucile, Gaillard, Jean‐Baptiste, Ragon, Clémence, Perez, Marie‐Josée, Tournaire, Magali, Blanchet, Patricia, Corsini, Carole, Haquet, Emmanuelle, Callier, Patrick, Geneviève, David, Pellestor, Franck, Puechberty, Jacques

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability Yazar: Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, Girard, Manon, Holder, Muriel, Manouvrier, Sylvie, Touitou, Isabelle, Lefort, Genevieve, Sarda, Pierre, Moncla, Anne, Drunat, Severine, Wieczorek, Dagmar, Genevieve, David

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim

Anatomical and functional abnormalities on MRI in kabuki syndrome Yazar: Boisgontier, Jennifer, Tacchella, Jean Marc, Lemaître, Hervé, Lehman, Natacha, Saitovitch, Ana, Gatinois, Vincent, Boursier, Guilaine, Sanchez, Elodie, Rechtman, Elza, Fillon, Ludovic, Lyonnet, Stanislas, Le Quang Sang, Kim-Hanh, Baujat, Genevieve, Rio, Marlene, Boute, Odile, Faivre, Laurence, Schaefer, Elise, Sanlaville, Damien, Zilbovicius, Monica, Grévent, David, Geneviève, David, Boddaert, Nathalie

Tam Metin Erişim Tam Metin Erişim Tam Metin Erişim