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Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
Bruneel, Arnaud, Cholet, Sophie, Drouin‐Garraud, Valérie, Jacquemont, Marie‐Line, Cano, Aline, Mégarbané, André, Ruel, Coralie, Cheillan, David, Dupré, Thierry, Vuillaumier‐Barrot, Sandrine, Seta, Nathalie, Fenaille, François
Published in Electrophoresis (01.12.2018)
Published in Electrophoresis (01.12.2018)
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Journal Article
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Published in Journal of medical genetics (01.06.2022)
Published in Journal of medical genetics (01.06.2022)
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Journal Article
High prevalence of Bardet‐Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3
Gouronc, Aurélie, Zilliox, Vincent, Jacquemont, Marie‐Line, Darcel, Françoise, Leuvrey, Anne‐Sophie, Nourisson, Elsa, Antin, Manuela, Alessandri, Jean‐Luc, Doray, Bérénice, Gueguen, Paul, Payet, Frédérique, Randrianaivo, Hanitra, Stoetzel, Corinne, Scheidecker, Sophie, Flodrops, Hugues, Dollfus, Hélène, Muller, Jean
Published in Clinical genetics (01.08.2020)
Published in Clinical genetics (01.08.2020)
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Journal Article
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Kuentz, Paul, St-Onge, Judith, Duffourd, Yannis, Courcet, Jean-Benoît, Carmignac, Virginie, Jouan, Thibaud, Sorlin, Arthur, Abasq-Thomas, Claire, Albuisson, Juliette, Amiel, Jeanne, Amram, Daniel, Arpin, Stéphanie, Attie-Bitach, Tania, Bahi-Buisson, Nadia, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Boccara, Olivia, Bonnière, Maryse, Boute, Odile, Bursztejn, Anne-Claire, Chiaverini, Christine, Cormier-Daire, Valérie, Coubes, Christine, Delobel, Bruno, Edery, Patrick, Chehadeh, Salima El, Francannet, Christine, Geneviève, David, Goldenberg, Alice, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie-Line, Khau Van Kien, Philippe, Lacombe, Didier, Martin, Ludovic, Martinovic, Jelena, Maruani, Annabel, Mathieu-Dramard, Michèle, Mazereeuw-Hautier, Juliette, Michot, Caroline, Mignot, Cyril, Miquel, Juliette, Morice-Picard, Fanny, Petit, Florence, Phan, Alice, Rossi, Massimiliano, Touraine, Renaud, Verloes, Alain, Vincent, Marie, Vincent-Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Lehalle, Daphné, Thevenon, Julien, Thauvin-Robinet, Christel, Hadj-Rabia, Smaïl, Faivre, Laurence, Vabres, Pierre, Rivière, Jean-Baptiste
Published in Genetics in medicine (01.09.2017)
Published in Genetics in medicine (01.09.2017)
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Journal Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome
Gerasimenko, Anna, Mignot, Cyril, Naggara, Olivier, Coulet, Florence, Ekram, Samar, Heide, Solveig, Sorato, Clarisse, Mazowiecki, Maxime, Perrin, Laurence, Colas, Chrystelle, Cusin, Veronica, Caux, Frédéric, Dardenne, Antoine, El Chehadeh, Salima, Verloes, Alain, Maurey, Hélène, Afenjar, Alexandra, Petit, Florence, Barete, Stéphane, Boespflug‐Tanguy, Odile, Bourrat, Emmanuelle, Capri, Yline, Ciorna, Viorica, Deb, Wallid, Doummar, Diane, Perrier, Alexandre, Guédon, Alexis, Houdart, Emmanuel, Isidor, Bertrand, Jacquemont, Marie‐Line, Buffet, Camille, Mercier, Sandra, Passemard, Sandrine, Riquet, Audrey, Ruaud, Lyse, Schaefer, Elise, Heron, Delphine, Bisdorff, Annouk, Benusiglio, Patrick R.
Published in Clinical genetics (01.07.2024)
Published in Clinical genetics (01.07.2024)
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Journal Article
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslier, Anne, Manouvrier, Sylvie, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Layet, Valérie, Naudion, Sophie, Odent, Sylvie, Pasquier, Laurent, Pelras, Sybille, Philip, Nicole, Pierquin, Geneviève, Prieur, Fabienne, Aboussair, Nisrine, Attie-Bitach, Tania, Baujat, Geneviève, Blanchet, Patricia, Blanchet, Catherine, Dollfus, Hélène, Doray, Bérénice, Schaefer, Elise, Edery, Patrick, Giuliano, Fabienne, Goldenberg, Alice, Goizet, Cyril, Guichet, Agnès, Herlin, Christian, Lambert, Laetitia, Leheup, Bruno, Martinovic, Jelena, Mercier, Sandra, Mignot, Cyril, Moutard, Marie-Laure, Perez, Marie-José, Pinson, Lucile, Puechberty, Jacques, Willems, Marjolaine, Randrianaivo, Hanitra, Szaskon, Kateline, Toutain, Annick, Verloes, Alain, Vigneron, Jacqueline, Sanchez, Elodie, Sarda, Pierre, Laplanche, Jean-Louis, Collet, Corinne
Published in Genetics in medicine (01.01.2016)
Published in Genetics in medicine (01.01.2016)
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Journal Article
Web Resource
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Journal Article
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
Faivre, Laurence, Crépin, Jean‐Charles, Réda, Manon, Nambot, Sophie, Carmignac, Virginie, Abadie, Caroline, Mirault, Tristan, Faure‐Conter, Cécile, Mazereeuw‐Hautier, Juliette, Maza, Aude, Puzenat, Eve, Collonge‐Rame, Marie‐Agnès, Bursztejn, Anne‐Claire, Philippe, Christophe, Thauvin‐Robinet, Christel, Chevarin, Martin, Abasq‐Thomas, Claire, Amiel, Jeanne, Arpin, Stéphanie, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Bourrat, Emmanuelle, Boute, Odile, Chassaing, Nicolas, Coubes, Christine, Demeer, Bénédicte, Edery, Patrick, El Chehadeh, Salima, Goldenberg, Alice, Hadj‐Rabia, Smail, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie‐Line, Van Kien, Philippe Khau, Lacombe, Didier, Lehalle, Daphné, Lambert, Laetitia, Martin, Ludovic, Maruani, Annabel, Morice‐Picard, Fanny, Petit, Florence, Phan, Alice, Pinson, Lucile, Rossi, Massimiliano, Touraine, Renaud, Vanlerberghe, Clémence, Vincent, Marie, Vincent‐Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Verkarre, Virginie, Devalland, Christine, Devouassoux‐Shisheboran, Mojgan, Abad, Marine, Rioux‐Leclercq, Nathalie, Bonniaud, Bertille, Duffourd, Yannis, Martel, Jehanne, Binquet, Christine, Kuentz, Paul, Vabres, Pierre
Published in Clinical genetics (01.11.2023)
Published in Clinical genetics (01.11.2023)
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Journal Article
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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Journal Article
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel
Published in European journal of human genetics : EJHG (01.10.2019)
Published in European journal of human genetics : EJHG (01.10.2019)
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Journal Article
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, Cormier-Daire, Valérie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gerard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Khau Van Kien, Philippe, Legendre, Marine, Le Quan Sang, K. H., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, Geneviève, David
Published in Genetics in medicine (01.01.2020)
Published in Genetics in medicine (01.01.2020)
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Journal Article
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
Sainte Agathe, Jean‐Madeleine, Monin, Pauline, Riccardi, Florence, Nava, Caroline, Arnaud, Lionel, Mignot, Cyril, Ville, Dorothée, Auvin, Stéphane, Tardieu, Sandrine, Larcher, Kathy, Gourfinkel‐An, Isabelle, Canon, Mathilde, Navarro, Vincent, Héron, Bénédicte, Julia, Sophie, Doummar, Diane, Jacquemont, Marie‐Line, Maurey, Hélène, Dozières‐Puyravel, Blandine, Perrin, Laurence, Pasquier, Laurent, Dubourg, Christèle, Odent, Sylvie, Bouazzaoui, Abdelhakim, Carre, Wilfrid, Fradin, Mélanie, Demurger, Florence, Chatron, Nicolas, Sanlaville, Damien, Essid, Miriam, Portes, Vincent des, Panagiotakaki, Eleni, Poulat, Anne‐Lise, Rivier, Clotilde, Sarret, Catherine, Remerand, Ganaëlle, Altuzarra, Cecilia, Stoeva, Radka, Nguyen, Sylvie, Piard, Juliette, Boucher, Élise, Flurin, Vincent, Guerrot, Anne‐Marie, Joriot, Sylvie, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Camus, Caroline Hachon‐Le, Villard, Laurent, Faoucher, Marie, Milh, Mathieu, Lesca, Gaëtan, Leguern, Éric
Published in European journal of neurology (01.08.2025)
Published in European journal of neurology (01.08.2025)
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Journal Article
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS
Daval, Charlène, Meunier‐Beillard, Nicolas, Viora‐Dupont, Eléonore, Delanne, Julian, Garde, Aurore, Racine, Caroline, Mau‐Them, Frédéric Tran, Denommé‐Pichon, Anne‐Sophie, Philippe, Christophe, Bruel, Ange‐Line, Safraou, Hana, Odent, Sylvie, Quélin, Chloé, Legendre, Marine, Naudion, Sophie, Jeanne, Médéric, Jacquemont, Marie‐Line, Guichet, Agnès, Saldana, Camille, Guerrot, Anne‐Marie, Goldenberg, Alice, Guégan, Caroline, Vincent, Marie, Putoux, Audrey, Francannet, Christine, Wells, Constance, Arthuis, Chloé, Alexandre, Elodie, Rousseau, Thierry, Martz, Olivia, Simon, Emilie, Magnien, Ornella, Bobert, Fanny, Bert, Sophie, Coatleven, Frédéric, Reveyaz, Fanny, Moulinié, Perrine, Binquet, Christine, Thauvin‐Robinet, Christel, Faivre, Laurence
Published in Prenatal diagnosis (22.07.2025)
Published in Prenatal diagnosis (22.07.2025)
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Journal Article
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard–Soulier syndrome in French patients from the genetic isolate of Reunion Island
Fiore, Mathieu, De Thoré, Céline, Randrianaivo‐Ranjatoelina, Hanitra, Baas, Marie‐Jeanne, Jacquemont, Marie‐Line, Dreyfus, Marie, Lavenu‐Bombled, Cécile, Li, Renhao, Gachet, Christian, Dupuis, Arnaud, Lanza, Francois
Published in British journal of haematology (01.05.2020)
Published in British journal of haematology (01.05.2020)
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Journal Article
GM3 synthase deficiency in non-Amish patients
Heide, Solveig, Jacquemont, Marie-Line, Cheillan, David, Renouil, Michel, Tallot, Marilyn, Schwartz, Charles E., Miquel, Juliette, Bintner, Marc, Rodriguez, Diana, Darcel, Françoise, Buratti, Julien, Haye, Damien, Passemard, Sandrine, Gras, Domitille, Perrin, Laurence, Capri, Yline, Gérard, Bénédicte, Piton, Amélie, Keren, Boris, Thauvin-Robinet, Christel, Duffourd, Yannis, Faivre, Laurence, Poe, Charlotte, Pervillé, Anne, Héron, Delphine, Thévenon, Julien, Arnaud, Lionel, LeGuern, Eric, La Selva, Lorita, Vetro, Annalisa, Guerrini, Renzo, Nava, Caroline, Mignot, Cyril
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Journal Article
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
Alessandri, Jean-Luc, Gordon, Christopher T., Jacquemont, Marie-Line, Gruchy, Nicolas, Ajeawung, Norbert F, Benoist, Guillaume, Oufadem, Myriam, Chebil, Asma, Duffourd, Yannis, Dumont, Coralie, Gérard, Marion, Kuentz, Paul, Jouan, Thibaud, Filippini, Francesca, Nguyen, Thi Tuyet Mai, Alibeu, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Omarjee, Asma, Ramful, Duksha, Randrianaivo, Hanitra, Doray, Bérénice, Faivre, Laurence, Amiel, Jeanne, Campeau, Philippe M., Thevenon, Julien
Published in European journal of human genetics : EJHG (01.03.2018)
Published in European journal of human genetics : EJHG (01.03.2018)
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Journal Article
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Ghali, Neeti, Baker, Duncan, Brady, Angela F., Burrows, Nigel, Cervi, Elena, Cilliers, Deirdre, Frank, Michael, Germain, Dominique P., Hulmes, David J.S., Jacquemont, Marie-line, Kannu, Peter, Lefroy, Henrietta, Legrand, Anne, Pope, F. Michael, Robertson, Lisa, Vandersteen, Anthony, von Klemperer, Kate, Warburton, Renarta, Whiteford, Margo, van Dijk, Fleur S.
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Journal Article
Growth charts in Kabuki syndrome 1
Ruault, Valentin, Corsini, Carole, Duflos, Claire, Akouete, Sandrine, Georgescu, Véra, Abaji, Mario, Alembick, Yves, Alix, Eudeline, Amiel, Jeanne, Amouroux, Cyril, Barat‐Houari, Mouna, Baumann, Clarisse, Bonnard, Adeline, Boursier, Guilaine, Boute, Odile, Burglen, Lydie, Busa, Tiffany, Cordier, Marie‐Pierre, Cormier‐Daire, Valérie, Delrue, Marie‐Ange, Doray, Bérénice, Faivre, Laurence, Fradin, Mélanie, Gilbert‐Dussardier, Brigitte, Giuliano, Fabienne, Goldenberg, Alice, Gorokhova, Svetlana, Héron, Delphine, Isidor, Bertrand, Jacquemont, Marie‐Line, Jacquette, Aurélia, Jeandel, Claire, Lacombe, Didier, Le Merrer, Martine, Sang, Kim Hanh Le Quan, Lyonnet, Stanislas, Manouvrier, Sylvie, Michot, Caroline, Moncla, Anne, Moutton, Sébastien, Odent, Sylvie, Pelet, Anna, Philip, Nicole, Pinson, Lucile, Reversat, Julie, Roume, Joëlle, Sanchez, Elodie, Sanlaville, Damien, Sarda, Pierre, Schaefer, Elise, Till, Marianne, Touitou, Isabelle, Toutain, Annick, Willems, Marjolaine, Gatinois, Vincent, Geneviève, David
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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Journal Article
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5
Lerat, Justine, Bonnet, Crystel, Cartault, François, Loundon, Natalie, Jacquemont, Marie‐Line, Darcel, Françoise, Rouillon, Isabelle, Mezouaghi, Kheira, Guichet, Agnes, Litzler, Julie, Gesny, Roselyne, Gherbi, Souad, Aissa, Ines Ben, Digeon, Fabienne Saint James, Garabedian, Eréa‐Nöel, Bonnefont, Jean‐Paul, Genin, Emmanuelle, Denoyelle, Françoise, Jonard, Laurence, Marlin, Sandrine
Published in Clinical genetics (01.01.2019)
Published in Clinical genetics (01.01.2019)
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Journal Article
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients
Lehalle, Daphné, Gordon, Christopher T., Oufadem, Myriam, Goudefroye, Géraldine, Boutaud, Lucile, Alessandri, Jean-Luc, Baena, Neus, Baujat, Geneviève, Baumann, Clarisse, Boute-Benejean, Odile, Caumes, Roseline, Decaestecker, Charles, Gaillard, Dominique, Goldenberg, Alice, Gonzales, Marie, Holder-Espinasse, Muriel, Jacquemont, Marie-Line, Lacombe, Didier, Manouvrier-Hanu, Sylvie, Marlin, Sandrine, Mathieu-Dramard, Michèle, Morin, Gilles, Pasquier, Laurent, Petit, Florence, Rio, Marlène, Smigiel, Robert, Thauvin-Robinet, Christel, Vasiljevic, Alexandre, Verloes, Alain, Malan, Valérie, Munnich, Arnold, de Pontual, Loïc, Vekemans, Michel, Lyonnet, Stanislas, Attié-Bitach, Tania, Amiel, Jeanne
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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