학술논문
'학술논문'
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1~10
Academic Journal
Agrawal, Pankaj; Armstrong Scott, Daryl; Barkoudah, Elizabeth; Bellini, Melissa; Beneteau, Claire; Bjørgo, Kathrine; Brooks, Alice; Brown, Natasha; Castle, Alison; Castro, Diana; Chorin, Odelia; Cleghorn, Mark; Clement, Emma; Coman, David; Costin, Carrie; Devriendt, Koen; Dong, Dexin; Dries, Annika; Duelund Hjortshøj, Tina; Dyment, David; Eng, Christine; Genetti, Casie; Grano, Siera; Henneman, Peter; Heron, Delphine; Hoffmann, Katrin; Hom, Jason; Du, Haowei; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma E.; Jones, Julie; Keren, Boris; Koenig, Mary Kay; Kohlhase, Jürgen; Lalani, Seema; Le Caignec, Cedric; Lewis, Andi; Liu, Pengfei; Lovgren, Alysia; Lupski, James R.; Lyons, Mike; Lysy, Philippe; Manning, Melanie; Marcelis, Carlo; McLean, Scott Douglas; Mercie, Sandra; Mertens, Mareike; Molin, Arnaud; Nizon, Mathilde; Nugent, Kimberly Margaret; Öhman, Susanna; O'Leary, Melanie; Okashah Littlejohn, Rebecca; Petit, Florence; Pfundt, Rolph; Pottocki, Lorraine; Raas-Rotschild, Annick; Ranguin, Kara; Revencu, Nicole; Rosenfeld, Jill; Rhodes, Lindsay; Santos Simmaro, Fernando; Sals, Karen; Schieving, Jolanda; Schrauwen, Isabelle; Schuurs-Hoeijmakers, Janneke H.M.; Seaby, Eleanor G.; Sheffer, Ruth; Snijders Blok, Lot; Sørensen, Kristina P.; Srivastava, Siddharth; Stark, Zornitza; Stoeva, Radka; Stutterd, Chloe; Tan, Natalie B.; Mathiesen Torring, Pernille; Vanakker, Olivier; van der Laan, Liselot; Ververi, Athina; Villavicencio-Lorini, Pablo; Vincent, Marie; Wand, Dorothea; Wessels, Marja; White, Sue; Wojcik, Monica H.; Wu, Nan; Zhao, Sen; Pérez Baca, María del Rocío; Jacobs, Eva Z.; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A.; Kerkhof, Jennifer; McConkey, Haley; Chen, Chun-An; Batzir, Nurit Assia; Wang, Xia; Palomares, María; Carels, Marieke; Dermaut, Bart; Sadikovic, Bekim; Menten, Björn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
de Masfrand, Servane; Cogné, Benjamin; Nizon, Mathilde; Deb, Wallid; Goldenberg, Alice; Lecoquierre, François; Nicolas, Gaël; Bournez, Marie; Vitobello, Antonio; Mau-Them, Frédéric Tran; le Guyader, Gwenaël; Bilan, Frédéric; Bauer, Peter; Zweier, Christiane; Piard, Juliette; Pasquier, Laurent; Bézieau, Stéphane; Gerard, Bénédicte; Faivre, Laurence; Saugier-Veber, Pascale; Piton, Amélie; Isidor, Bertrand
In European Journal of Medical Genetics June 2024 69
Academic Journal
Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza
In Genetics in Medicine November 2023 25(11)
Academic Journal
Attié-Bitach, Tania; Comier-Daire, Valerie; Rozet, Jean-Michel; Frishberg, Yaacov; Llanas, Brigitte; Broyer, Michel; Mohsin, Nabil; Macher, Marie-Alice; Philip, Nicole; Baudouin, Véronique; Brackman, Damian; Loirat, Chantal; Charbit, Marina; Dehennault, Maud; Guyot, Claude; Bataille, Pierre; Elting, Mariet; Deschenes, Georges; Gropman, Andrea; Guest, Geneviève; Gagnadoux, Marie-France; Nicoud, Philippe; Cochat, Pierre; Ranchin, Bruno; Bensman, Albert; Guerrot, Anne-Marie; Knebelmann, Bertrand; Bilge, Ilmay; Bruno, Danièle; Burtey, Stéphane; Rouvière, Caroline Rousset; Caudwell, Valérie; Morin, Denis; Dollfus, Hélène; Maisin, Anne; Hamel, Christian; Bieth, Eric; Gie, Sophie; Goodship, Judith; Roussey, Gwenaelle; La Selve, Hermine; Nivet, Hubert; Bessenay, Lucie; Caillez, Mathilde; Palcoux, Jean Bernard; Benoît, Stéphane; Dubot, Philippe; Fila, Marc; Giuliano, Fabienne; Iftene, Daouya; Kessler, Michele; Kwon, Theresa; Lahoche, Anine; Laurent, Audrey; Leclerc, Anne-Laure; Milford, David; Neuhaus, Thomas; Odent, Sylvie; Eckart, Philippe; Chauveau, Dominique; Niaudet, Patrick; Repetto, Horacio; Taque, Sophie; Bruel, Alexandra; Noel-Botte, Alexandra; Launay, Emma Allain; Allard, Lisa; Anlicheau, Dany; Adra, Anne-Laure; Garnier, Arnaud; Nagra, Arvind; Baatard, Remy; Bacchetta, Justine; Sadikoglu, Banu; Barnerias, Christine; Barthelemy, Anne; Basel, Lina; Bassilios, Nader; Ben Maiz, Hedi; Ben Moussa, Fatma; Benmati, Faïza; Berthaud, Romain; Bertholet, Aurélia; Blanchier, Dominique; Boffa, Jean Jacques; Bouchireb, Karim; Bouhabel, Ihab; Boukerroucha, Zakaria; Bourdat-Michel, Guylhène; Boute, Odile; Brochard, Karine; Caumes, Roseline; Elalaoui, Siham Chafai; Chamontin, Bernard; Chastang, Marie Caroline; Pietrement, Christine; Richer, Christine; Legendre, Christophe; Dahan, Karin; Dalla-Vale, Fabienne; Thibaudin, Damien; Dauvergne, Maxime; Davourie, Salandre; Debeukelaer, Martin; Delbet, Jean Daniel; Deltas, Constantinos; Graber, Denis; Devillars, Nadège; Diouf, Boucar; Fenzy, Martine Doco; André, Jean-Luc; Joly, Dominique; Fryer, Alan; Albano, Laetitia; Cassuto, Elisabeth; Pincon, Aline; Medeira, Ana; Chaussenot, Annabelle; Mensire-Marinier, Anne; Bouissou, Francois; Decramer, Stephane; Bottani, Armand; Hummel, Aurélie; Karras, Alexandre; Katz, Avi; Azema, Christine; Janbon, Bénédicte; Roussel, Bernard; Bonniol, Claude; Mariat, Christiophe; Champion, Gérard; Chantreuil, Deborah; Chassaing, Nicolas; Mousson, Christiane; Baudeau, Christine; Cuntz, Delphine Hafdar; Mignot, Cyril; Dehoux, Laurene; Lacombe, Didier; Hannedouche, Thierry; Mérieau, Elodie; Charlin, Emmanuelle; Gauthier, Eric; Plasse, Florent; Faguer, Stanislas; Lebas, Fanny; Demurger, Florence; Emma, Francesco; Cartault, François; Dumont, Geneviève; Godefroid, Nathalie; Guigonis, Vincent; Hillaire, Sophie; Groothoff, Jaap; Dudley, Jan; Jourde-Chiche, Noémie; El Karoui, Khalil; Krid, Saoussen; Coudert, Krier; Bencheick, Larbi; Yver, Laurent; Lavocat, Marie-Pierre; De Sagazan, Le Monies; Leroy, Valerie; Thibaudin, Lise; Ingulli, Liz; Gwanmesia, Lorraine; Burglen, Lydie; Saïd-Menthon, Marie-Hélène; Carrera, Marta; Nizon, Mathilde; Melander, Catherine; Foulard, Michel; Blayo, Monique; Prinseau, Jacques; Jay, Nadine; Brun, Nathalie; Camille, Nicolas; Nobili, François; Devuyst, Olivier; Ben Brahim, Ouafa; Parvex, Paloma; Sabourin, Laurence Perrin; Blanc, Philippe; Vanhille, Philippe; Galichon, Pierre; Pierrepont, Sophie; Planquois, Vincent; Poussard, Gwenaelle; Noble, Claire Pouteil; Allal, Radia; Bernard, Raphaelle; Mounet, Raynaud; Cahen, Rémi; Touraine, Renaud; Rigothier, Claire; Ryckewaert, Amélie; Sacquepee, Mathieu; El Chehadeh, Salima; Samaille, Charlotte; Haq, Shuman; Simckes, Ari; Lanoiselée, Stéphanie; Tellier, Stephanie; Subra, Jean-François; Cloarec, Sylvie; Tenenbam, Julie; Lamy, Thomas; Garraud, Valérie Drouin; Valette, Huguette; Meyssonnier, Vanina; Vargas-Poussou, Rosa; Snajer, Yves; Durault, Sandrine; Plaisier, Emmanuelle; Berard, Etienne; Fakhouri, Fadi; Louillet, Ferielle; Finielz, Paul; Fischbach, Michel; Foliguet, Bernard; Francois-Pradier, Hélène; Garaix, Florentine; Gerard, Marion; Rizzoni, Gianfranco; Gilbert, Brigitte; Glotz, Denis; Dubrasquet, Astrid Godron; Grünfeld, Jean-Pierre; Bollee, Guillaume; Hall, Michelle; Hansson, Sverker; Haye, Damien; Taffin, Hélène; Hildebrandt, Friedhelm; Hourmand, Maryvonne; Kayserili, Hümya; Tack, Ivan; Jacquemont, Marie Line; Fabre-Teste, Jennifer; Kashtan, Cliff; Van Hoeck, Kkoen; Klein, Alexandre; Knefati, Yannick; Knoers, Nine; Konrad, Martin; Lachaux, Alain; Landru, Isabelle; Landthaler, Gilbert; Lang, Philippe; Le Pogamp, Patrick; Legris, Tristan; Didailler, Catherine; Lobbedez, Thierry; de Parscau, Loïc; Pinson, Lucile; Maheut, Hervé; Duval-Arnould, Marc; Rio, Marlène; Gubler, Marie-Claire; Merville, Pierre; Mestrallet, Guillaume; Meunier, Maite; Moreau, Karine; Harambat, Jérôme; Morgan, Graeme; Mourad, Georges; Stuber, Niksic; Boespflug-Tanguy, Odile; Dunand, Olivier; Niel, Olivier; Ouali, Nacera; Malvezzi, Paolo; Jaoude, Pauline Abou; Pelletier, Solenne; Peltier, Julie; Petersen, M.B.; Michel, Philippe; Rémy, Philippe; Philit, Jean-Baptiste; Pichault, Valérie; Billette de Villemeur, Thierry; Boudailliez, Bernard; Leheup, Bruno; Dossier, Claire; Djeddi, Djamal-Dine; Berland, Yves; Hurault de Ligny, Bruno; Rigden, Susan; Robino, Christophe; Rossi, Annick; Sarnacki, Sabine; Saidani, Messaoud; Sartorius, Albane Brodin; Schäfer, Elise; Laszlo, Sztriha; Thouret, Marie-Christine; Thuillier-Lecouf, Angélique; Trachtman, Howard; Trivin, Claire; Tsimaratos, Michel; Van Damme-Lombaerts, Rita; Willems, Marjolaine; Youssef, Michel; Zaloszyc, Ariane; Zawodnik, Alexis; Ziliotis, Marie-Julia; Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Morinière, Vincent; Krug, Pauline; Jeanpierre, Cécile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie
In Kidney International August 2023 104(2):378-387
Academic Journal
Pacault, Mathilde; Nizon, Mathilde; Pichon, Olivier; Vincent, Marie; Le Caignec, Cédric; Isidor, Bertrand
In European Journal of Medical Genetics December 2019 62(12)
Academic Journal
Caengprasath, Natarin; Nizon, Mathilde; Panchaprateep, Ratchathorn; Cogne, Benjamin; Cuinat, Silvestre; Auburt, Hélène; Jonca, Nathalie; Porntaveetus, Thantrira ; Shotelersuk, Vorasuk
In Journal of Dermatological Science December 2023 112(3):166-169
Academic Journal
Herbst, Charlotte; Bothe, Viktoria; Wegler, Meret; Axer-Schaefer, Susanne; Audebert-Bellanger, Séverine; Gecz, Jozef; Cogne, Benjamin; Feldman, Hagit Baris; Horn, Anselm H. C.; Hurst, Anna C. E.; Kelly, Melissa A.; Kruer, Michael C.; Kurolap, Alina; Laquerriere, Annie; Li, Megan; Mark, Paul R.; Morawski, Markus; Nizon, Mathilde; Pastinen, Tomi; Polster, Tilman
Human Genetics; Mar2024, Vol. 143 Issue 3, p455-469, 15p
Academic Journal
Koch, Intisar; Slovik, Maya; Yuling Zhang; Bingyu Liu; Rennie, Martin; Konz, Emily; Cogne, Benjamin; Daana, Muhannad; Davids, Laura; Diets, Illja J.; Gold, Nina B.; Holtz, Alexander M.; Isidor, Bertrand; Mor-Shaked, Hagar; Fresneda, Juanita Neira; Niederhoffer, Karen Y.; Nizon, Mathilde; Pfundt, Rolph; Simon, M. E. H.; Stegmann, A. P. A.
Life Science Alliance; Mar2024, Vol. 7 Issue 3, p1-14, 14p
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
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