학술논문
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위반 시 제재
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'학술논문'
에서 검색결과 296건 | 목록
1~20
Academic Journal
Cospain, Auriane; Rollier, Paul; Lokchine, Anna; Launay, Erika; Dion, Ludivine; Lavillaureix, Alinoé; Morel, Godelieve; Mary, Laura; Pasquier, Laurent; Quelin, Chloé; Petit, Fabrice G.; Jamin, Soazik P.; Fradin, Mélanie; Nouyou, Bénédicte; Carré, Wilfrid; Bouvet, Régis; Gauthier, Lenaick Detivaud; Guerrier, Daniel; Faoucher, Marie; Dubourg, Christèle; Odent, Sylvie; Belaud Rotureau, Marc-Antoine; Lavoue, Vincent; Jaillard, Sylvie
Journal of Assisted Reproduction and Genetics. :1-13
Academic Journal
El Chehadeh, Salima; Heide, Solveig; Quélin, Chloé; Rio, Marlène; Margot, Henri; Geneviève, David; Isidor, Bertrand; Goldenberg, Alice; Guégan, Caroline; Lesca, Gaëtan; Willems, Marjolaine; Ormières, Clothilde; Caumes, Roseline; Busa, Tiffany; Bonneau, Dominique; Guerrot, Anne-Marie; Marey, Isabelle; Vera, Gabriella; Marzin, Pauline; Philippe, Anaïs; Garde, Aurore; Coubes, Christine; Vincent, Marie; Michaud, Vincent; Mignot, Cyril; Charles, Perrine; Sigaudy, Sabine; Edery, Patrick; Lacombe, Didier; Boland, Anne; Nowak, Frédérique; Bouctot, Marion; Humbert-Asensio, Marie-Laure; Simon, Alban; Chennen, Kirsley; Sabour, Niki; Delmas, Christelle; Nicolas, Gaël; Saugier-Veber, Pascale; Lecoquierre, François; Cassinari, Kévin; Keren, Boris; Courtin, Thomas; De Sainte Agathe, Jean-Madeleine; Malan, Valérie; Barcia, Giulia; Tran Mau-Them, Frédéric; Safraou, Hana; Philippe, Christophe; Thévenon, Julien; Chatron, Nicolas; Januel, Louis; Piton, Amélie; Haushalter, Virginie; Gérard, Bénédicte; Lejeune, Catherine; Faivre, Laurence; Sanlaville, Damien; Héron, Delphine; Odent, Sylvie; Nitschké, Patrick; Schluth-Bolard, Caroline; Lyonnet, Stanislas; Deleuze, Jean-François; Binquet, Christine; Dollfus, Hélène
Genome Medicine. 17(1)
Academic Journal
Gabriel Morin; Alexandre P Garneau; Nabiha Bouzakher; Louise Ségot; Antoine Fraissenon; Amélie Blondel; Florence Petit; Caroline Chopinet; Franck Mayeux; Pierre Fayoux; Anne Dompmartin; Christine Bodemer; Estelle Balducci; Sophie Kaltenbach; Patrick Villarese; Vahid Asnafi; Christophe Legendre; Christine Broissand; Sylvie Fraitag; Chloé Quelin; Nicolas Goudin; Laurent Guibaud; Guillaume Canaud
EMBO Mol Med
Academic Journal
Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sébastien; Quelin, Chloé; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frédéric; Bourgon, Nicolas
European Journal of Human Genetics. 33(5):675-682
Academic Journal
Haïm, David; Roux, Nathalie; Boutaud, Lucile; Verlin, Laure; Quélin, Chloé; Moncler, Candice; Bourgon, Nicolas; Achaiia, Amale; Roth, Philippe; Marijon, Pierre; Vanlieferinghen, Sarah; Thomas, Sophie; Attié-Bitach, Tania
European Journal of Human Genetics. :1-6
Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility
Academic Journal
Auriane Cospain; Ludivine Dion; Maud Bidet; Krystel Nyangoh Timoh; Chloé Quelin; Isis Carton; Alinoe Lavillaureix; Karine Morcel; Paul Rollier; Laurent Pasquier; Bénédicte Nouyou; Sylvie Odent; Daniel Guerrier; Erika Launay; Marc‐Antoine Belaud Rotureau; Mélanie Fradin; Sylvie Jaillard; Vincent Lavoué
Acta Obstetricia et Gynecologica Scandinavica, Vol 104, Iss 3, Pp 514-521 (2025)
Academic Journal
Erkut, Esra ; Somerville, Cherith ; Schwartz, Marci L.B. ; McDonald, Laura ; Ding, Qiliang ; Moran, Olivia M. ; Chen, Xin ; Manshaei, Roozbeh ; Riedijk, Anne-Sophie ; Schnürer, Marie-Therese ; Koboldt, Daniel C. ; Antonarakis, Stylianos E. ; Bedoukian, Emma C. ; Blanc, Xavier ; Conlin, Laura K. ; Cox, Helen ; Diderich, Karin E.M. ; Dingmann, Bri ; Dubourg, Christèle ; Elmslie, Frances ; Escobar, Luis F. ; Gosselin, Rachel ; Guillen Sacoto, Maria J. ; Haag, Cynthia D. ; Herzig, Lisa ; Jeeneea, Ramanand ; Kenia, Priti ; Kolokotronis, Konstantinos ; Kopps, Anna M. ; Kupper, Christin ; Lees, Hayley ; Leonard, Jacqueline ; Levy, Jonathan ; Littlejohn, Rebecca ; Mayer, Demian ; McBride, Kim L. ; McLean, Scott D. ; Pattani, Nikhil ; Perrin, Laurence ; Pingault, Véronique ; Quelin, Chloé ; Ranza, Emmanuelle ; Rauch, Anita ; Reichert, Sara L. ; Rosmaninho-Salgado, Joana ; Skraban, Cara ; Sousa, Sérgio ; Stuebben, Melissa ; Zanoni, Paolo ; Kim, Raymond H. ; Scott, Ian C. ; Jobling, Rebekah K.
In The American Journal of Human Genetics 6 November 2025 112(11):2625-2642
Academic Journal
Bou-Rouphael, Johnny ; Cospain, Auriane ; Courtin, Thomas ; Keren, Boris ; Marie, Corentine ; Lesieur-Sebellin, Marion ; Heron, Delphine ; de Sainte Agathe, Jean-Madeleine ; Heide, Solveig ; Lejeune, Elodie ; Quelin, Chloe ; Lecoquierre, François ; Nizon, Mathilde ; Isidor, Bertrand ; Besnard, Thomas ; Cogne, Benjamin ; Latypova, Xenia ; Levy, Jonathan ; Joset, Pascal ; Steindl, Katharina ; Palomares-Bralo, Maria ; Santos-Simarro, Fernando ; Thomas, Mary Ann ; Abubakar, Amina ; Lynch, Sally Ann ; Müller, Amelie J. ; Haack, Tobias B. ; Zenker, Martin ; Parker, Michael ; Clossick, Emma ; Spiller, Michael ; Crookes, Renarta ; Holder-Espinasse, Muriel ; Bayat, Allan ; Møller, Rikke S. ; Mieszczanek, Tomasz Stanislaw ; de la Grange, Pierre ; Buratti, Julien ; Marijon, Pierre ; Ataf, Sabir ; Gavin, Ryan ; Parras, Carlos ; Hassan, Bassem A. ; Mignot, Cyril ; El Khattabi, Laïla
In The American Journal of Human Genetics 6 November 2025 112(11):2605-2624
Academic Journal
Lavillaureix, Alinoë ; Rollier, Paul ; Kim, Artem ; Panasenkava, Veranika ; De Tayrac, Marie ; Carré, Wilfrid ; Guyodo, Hélène ; Faoucher, Marie ; Poirel, Elisabeth ; Akloul, Linda ; Quélin, Chloé ; Whalen, Sandra ; Bos, Jessica ; Broekema, Marjoleine ; van Hagen, Johanna M. ; Grand, Katheryn ; Allen-Sharpley, Michelle ; Magness, Emily ; McLean, Scott D. ; Kayserili, Hülya ; Altunoglu, Umut ; En Qi Chong, Angie ; Xue, Shifeng ; Jeanne, Médéric ; Almontashiri, Naif ; Habhab, Wisam ; Vanlerberghe, Clemence ; Faivre, Laurence ; Viora-Dupont, Eléonore ; Philippe, Christophe ; Safraou, Hana ; Laffargue, Fanny ; Mittendorf, Luisa ; Abou Jamra, Rami ; Patil, Siddaramappa Jagdish ; Dalal, Ashwin ; Sarma, Asodu Sandeep ; Keren, Boris ; Reversade, Bruno ; Dubourg, Christèle ; Odent, Sylvie ; Dupé, Valérie
In Genetics in Medicine July 2024 26(7)
Academic Journal
Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
European Journal of Human Genetics. 32(2):190-199
Academic Journal
Nicolas BOURGON; Christel Thauvin-Robinet; Aurore Garde; Maud FAVIER; Julian Delanne; Caroline Racine; thierry rousseau; Sophie Nambot; Ange-Line Bruel; Sébastien MOUTTON; Chloé Quelin; Cindy COLSON; Anne-Claire BREHIN; Anne-Marie Guerrot; Caroline Rooryck; Audrey Putoux; Patricia Blanchet; Sylvie Odent; Elise Schaefer; Odile Boute; Alice Goldenberg; Agnès Guichet; Carine Abel; Godelieve MOREL; Mélanie FRADIN; Bertrand Isidor; Marie Vincent; Christine Francannet; Gabriella Vera; Florence Petit; Mathilde Nizon; Constance Wells; Médéric Jeanne; Caroline DEILLET; Alban ZIEGLER; Manon GODIN; Pascale SAUGIER-VEBER; Kévin Cassinari; Pierre Blanc; Emmanuel Simon; Christine Binquet; Yannis Duffourd; Hana Safraou; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Christophe Philippe; Laurence Faivre; Frédéric Tran-Mau-Them; Nicolas Bourgon
Academic Journal
Daval, Charlene; Meunier-Beillard, Nicolas; Viora-Dupont, Eleonore; Delanne, Julian; Garde, Aurore; Racine, Caroline; Mau-Them, Frederic Tran; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bruel, Ange-Line; Safraou, Hana; Odent, Sylvie; Quelin, Chloe; Legendre, Marine; Naudion, Sophie; Jeanne, Mederic; Jacquemont, Marie-Line; Guichet, Agnes; Saldana, Camille; Guerrot, Anne-Marie; Goldenberg, Alice; Guegan, Caroline; Vincent, Marie; Putoux, Audrey; Francannet, Christine; Wells, Constance; Arthuis, Chloe; Alexandre, Elodie; Rousseau, Thierry; Martz, Olivia; Simon, Emilie; Magnien, Ornella; Bobert, Fanny; Bert, Sophie; Coatleven, Frederic; Reveyaz, Fanny; Moulinie, Perrine; Binquet, Christine; Thauvin-Robinet, Christel; Faivre, Laurence
Academic Journal
Cuinat, Silvestre ; Quélin, Chloé ; Pasquier, Laurent ; Loget, Philippe ; Aussel, Dominique ; Odent, Sylvie ; Laquerrière, Annie ; Proisy, Maia ; Mazoyer, Sylvie ; Delous, Marion ; Edery, Patrick ; Chatron, Nicolas ; Lesca, Gaetan ; Putoux, Audrey
In European Journal of Medical Genetics November 2023 66(11)
Academic Journal
Nishio, Yosuke ; Kato, Kohji ; Tran Mau-Them, Frederic ; Futagawa, Hiroshi ; Quélin, Chloé ; Masuda, Saori ; Vitobello, Antonio ; Otsuji, Shiomi ; Shawki, Hossam H. ; Oishi, Hisashi ; Thauvin-Robinet, Christel ; Takenouchi, Toshiki ; Kosaki, Kenjiro ; Takahashi, Yoshiyuki ; Saitoh, Shinji
In Human Genetics and Genomics Advances 12 October 2023 4(4)
Academic Journal
Schmid, Cosima M. ; Gregor, Anne ; Costain, Gregory ; Morel, Chantal F. ; Massingham, Lauren ; Schwab, Jennifer ; Quélin, Chloé ; Faoucher, Marie ; Kaplan, Julie ; Procopio, Rebecca ; Saunders, Carol J. ; Cohen, Ana S.A. ; Lemire, Gabrielle ; Sacharow, Stephanie ; O’Donnell-Luria, Anne ; Segal, Ranit Jaron ; Kianmahd Shamshoni, Jessica ; Schweitzer, Daniela ; Ebrahimi-Fakhari, Darius ; Monaghan, Kristin ; Palculict, Timothy Blake ; Napier, Melanie P. ; Tao, Alice ; Isidor, Bertrand ; Moradkhani, Kamran ; Reis, André ; Sticht, Heinrich ; Chung, Wendy K. ; Zweier, Christiane
In Genetics in Medicine July 2023 25(7)
Academic Journal
Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Gao, Fei; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vandrovcova, Jana; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Alexander, Elizabeth; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Efthymiou, Stephanie; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Varavallo, Alessandra; Banfi, Sandro; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Radio, Francesca Clementina; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. 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In Genetics in Medicine April 2023 25(4)
Academic Journal
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In The American Journal of Human Genetics 2 February 2023 110(2):215-227
Academic Journal
Pediatric and Developmental Pathology. 25:548-552
Academic Journal
Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson
J Clin Invest
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A, Hancarova, M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L,Quelin , C, Misra, V K, Chick, E, Romano, C, Greco, D, Arena, A, Morleo, M, Nigro, V, Seyama, R, Uchiyama, Y, Matsumoto, N, Taira, R, Tashiro, K, Sakai, Y, Yigit, G, Wollnik, B, Wagner, M, Kutsche, B, Hurst, A C E, Thompson, M L, Schmidt, R, Randolph, L, Spillmann, R C, Shashi, V, Higginbotham, E J, Cordeiro, D, Carnevale, A, Costain, G, Khan, T, Funalot, B, Mau-Them, F T, Garcia Moya, L F, García-Miñaúr, S, Osmond, M, Chad, L, Quercia, N, Carrasco, D, Li, C, Sanchez-Valle, A, Kelley, M, Nizon, M, Jensson, B O, Sulem, P, Stefansson, K, Gorokhova, S, Busa, T, Rio, M, Habdallah, H H, Lesieur-Sebellin, M, Amiel, J, Pingault, V, Mercier, S, Vincent, M, Philippe, C, Fatus-Fauconnier, C, Friend, K, Halligan, R K, Biswas, S, Rosser, J, Shoubridge, C, Corbett, M, Barnett, C, Gecz, J, Leppig, K, Slavotinek, A, Marcelis, C, Pfundt, R, de Vries, B B A, van Slegtenhorst, M A, Brooks, A S, Cogne, B, Rambaud, T, Tümer, Z, Zackai, E H, Akizu, N, Song, Y & Hakonarson, H 2024, ' Spliceosome malfunction causes neurodevelopmental disorders with overlapping features ', Journal of Clinical Investigation, vol. 134, no. 1, e171235 . https://doi.org/10.1172/JCI171235
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K, Pérez-Jurado, L A, Aznar-Laín, G, Aneja, A, Hancarova, M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L,
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Academic Journal
Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cecile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Berenice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Genevieve, David; Vernimmen, Vivian; Broen, Martinus P. G.; Sigaudy, Sabine; Odent, Sylvie; Damaj, Lena; Quelin, Chloe; Pasquier, Laurent; Layet, Valerie; Gilbert-Dussardier, Brigitte; Nicolas, Gael; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Benejean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sebastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Severine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Lea; Morera, Julia; Paquis-Flucklinger, Veronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Beatrice; Wolkenstein, Pierre; Pasmant, Eric; NF France Network
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