학술논문
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'학술논문'
에서 검색결과 209건 | 목록
1~20
Academic Journal
Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; V. Derrick, Anna; Rees, Mark I.; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M.; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H.; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans, PhD, 1973; Frykholm, Carina; Bozdogan, Sevcan Tug; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tumer, Zeynep; Hjortshoj, Tina D.; Ronde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J.; Zaki, Maha S.; Gleeson, Joseph G.; Calame, Daniel G.; Pehlivan, Davut; Yilmaz, Halil I.; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoglu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K.; Glazunova, Olga O.; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E.; Varshney, Gaurav K.; Houlden, Henry; Fu, Dragony
American Journal of Human Genetics. 112(5)
Academic Journal
Rocio Rius; Alexander JM Blakes; Yuyang Chen; Joachim De Jonghe; Javeria R Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V Balton; Giulia Barcia; Jonathan A Bernstein; Pierre Blanc; Daniel Buchzik; Daniel G Calame; Benjamin Cogne; Charles Coutton; Chloe A Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Vanessa Geiger; Richard A Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B Haack; Hamza Hadj Abdallah; Radu Harbuz; Bertrand Isidor; Marie-Line Jacquemont; Médéric Jeanne; G. Christoph Korenke; Urania Kotzaeridou; Richard J Leventer; James R Lupski; Pierre Marijon; Kaitlin E McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Jennifer E Posey; Chloe M Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; Christel Thauvin; Julien Thevenon; Eloise Uebergang; Catherine Vincent-Delorme; Evangeline Wassmer; Matthew T Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J Sanders; Siddharth Banka; Gregory M Findlay; Daniel G MacArthur; Cas Simons; Nicola Whiffin
Academic Journal
Charlotte Tardy; Jean Philippe Trani; Victor Murcia Pienkowski; Loeva Morin; Christel Castro; Louis Souville; Camille Humbert; Laurène Gérard; Nathalie Eudes; Amire Assoumani; Karine Bertaux; Camille Verebi; Juliette Nectoux; Emmanuelle Salort Campana; Marie Line Jacquemont; Annick Toutain; Martial Mallaret; Céline Tard; Mélanie Fradin; Shahram Attarian; Karine Nguyen; Rafaëlle Bernard; Frédérique Magdinier
Academic Journal
de 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
Eur J Neurol
Academic Journal
Daval, Charlène; Meunier-Beillard, Nicolas; Viora-Dupont, Eléonore; Delanne, Julian; Garde, Aurore; Racine, Caroline; Tran Mau-Them, Frédéric; 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, Agnés; Saldana, Camille; Guerrot, Anne Marie; Goldenberg, Alice; Guégan, C; Vincent, Marie; Putoux, Audrey; Francannet, Christine; Wells, Constance; Arthuis, Chloé; Alexandre, Elodie; Rousseau, Thierry; Martz, Olivia; Simon, Émilie; Magnien, Ornella; Bobert, Fanny; Bert, Sophie; Coatleven, Frédéric; Reveyaz, Fanny; Moulinié, Perrine; Binquet, C; Thauvin-Robinet, Christel; Faivre, Laurence
Prenatal Diagnosis.
Academic Journal
M’Zahem, Abderrahim; Goldenberg, Alice; Bolocan, Anamaria; Gerdelat, Angélique; Heinzmann, Anna; Grapperon, Aude-Marie; Riou, Audrey; Carlander, Bertrand; Chabrol, Brigitte; Simon-Bouy, Brigitte; Moulard, Bruno; Taris, Caroline Espil; Gire, Catherine; vanHulle, Catherine; Yardin, Catherine; Thauvin-Robinet, Christel; Coubes, Christine; De Barace, Claire; Desnuelles, Claude; Mignard, Claude; Adams, David; Doummar, Diane; Baudou, Eloïse; Roze, Emmanuel; Boutin, Emmanuelle; Demurger, Florence; Audic, Frédérique; Payet, Frédérique; Nicolas, Gaël; Sole, Guilhem; Taieb, Guillaume; Chaabouni, Habiba; Ranjatoelina, Hanitra; Ion, Ioana; Pouget, Jean; Pedespan, Jean-Michel; N’Guyen, Karine; van Maldergem, Lionel; Guyant-Maréchal, Lucie; Jacquemont, Marie-Line; Monin, Marie-Lorraine; Hardy, Maxime; Cintas, Pascal; Sabouraud, Pascal; Aubourg, Patrick; Calvas, Patrick; Collignon, Patrick; Casenave, Philippe; Debs, Rabab; Thummler, Susanne; Fenu, Sylvia; Stojkovic, Tanja; Rouaud, Tiphaine; Gioiosa, Valeria; Trommsdorff, Valérie; Gonzales, Victoria; Ferrer, Xavier; Matoussi, Zied; Benkirane, Mehdi ; Marelli, Cecilia ; Choumert, Ariane ; Goizet, Cyril ; Patat, Olivier ; Ewenczyk, Claire ; Anheim, Mathieu ; Mégarbané, André ; Larrieu, Lise ; Charlin, Cyril ; Ory-Magne, Fabienne ; Chaussenot, Annabelle ; Fradin, Mélanie ; Guissart, Claire ; Pointaux, Morgane ; Cossée, Mireille ; Vincent, Marie-Claire ; Bergougnoux, Anne ; Hersent, Clément ; Bareil, Corinne ; Roubertie, Agathe ; Fluchère, Frédérique ; Renaud, Mathilde ; Kremer, Laurent ; Tranchant, Christine ; Attarian, Shahram ; Odent, Sylvie ; Laugel, Vincent ; Walther-Louvier, Ulrike ; Desnous, Beatrice ; Bieth, Eric ; Husson, Isabelle ; Azulay, Jean Phillipe ; Rivier, François ; Doray, Bérénice ; Durr, Alexandra ; Aouinti, Safa ; Molinari, Nicolas ; Koenig, Michel
In Genetics in Medicine December 2025 27(12)
Academic Journal
Joachim De Jonghe; Hyung Chul Kim; Ayanfeoluwa Adedeji; Elsa Leitão; Ruebena Dawes; Yuyang Chen; Alexander JM Blakes; Cas Simons; Rocio Rius; Javeria R Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Elsa V Balton; Pierre Blanc; Daniel G Calame; Charles Coutton; Chloe A Cunningham; Nitsuh Dargie; Katrina M Dipple; Haowei Du; Salima El Chehadeh; Ian Glass; Joseph G Gleeson; Olivier Grunewald; Paul Gueguen; Radu Harbuz; Marie-Line Jacquemont; Richard J Leventer; Pierre Marijon; Olfa Messaoud; Tipu Sultan; Christel Thauvin; Catherine Vincent-Delorme; Elif Yilmaz Gulec; Julien Thevenon; Rodrigo Mendez; Daniel G MacArthur; Christel Depienne; Caroline Nava; Nicola Whiffin; Gregory M Findlay
medRxiv
Academic Journal
Anna Gerasimenko; Cyril Mignot; Olivier Naggara; Florence Coulet; Samar Ekram; Solveig Heide; Clarisse Sorato; Maxime Mazowiecki; Laurence Perrin; Chrystelle Colas; Veronica Cusin; Frédéric Caux; Antoine Dardenne; Salima El Chehadeh; Alain Verloes; Hélène Maurey; Alexandra Afenjar; Florence Petit; Stéphane Barete; Odile Boespflug‐Tanguy; Emmanuelle Bourrat; Yline Capri; Viorica Ciorna; Wallid Deb; Diane Doummar; Alexandre Perrier; Alexis Guédon; Emmanuel Houdart; Bertrand Isidor; Marie‐Line Jacquemont; Camille Buffet; Sandra Mercier; Sandrine Passemard; Audrey Riquet; Lyse Ruaud; Elise Schaefer; Delphine Heron; Annouk Bisdorff; Patrick R. Benusiglio
Clinical Genetics. 106:90-94
Academic Journal
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; 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
Clinical Genetics. 104:554-563
Academic Journal
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; 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, Stéphane; 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
INSERM–Necker Hospital NPH collaborative group 2023, 'The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies', Kidney International, vol. 104, no. 2, pp. 378-387. https://doi.org/10.1016/j.kint.2023.05.007
Academic Journal
Alessandri, Jean-Luc ; Celse, Tristan ; Spodenkiewicz, Marta ; Calaya, Anais ; Dumont, Coralie ; Jacquemont, Marie-Line ; Bertaut-Nativel, Bénédicte ; Boumahni, Brahim ; Rémy, Mathilde ; Ferroul, Fanny ; Guilly, Suzie ; Huby, Thomas ; Irabé, Mireille ; Laurens, Tiffany ; Munier, Patrick ; Morel, Godelieve ; Payet, Frédérique ; Randrianaivo, Hanitra ; Doray, Bérénice ; Dospeux, Jessica
In European Journal of Medical Genetics June 2024 69
Academic Journal
Stephanie Efthymiou; Cailyn P Leo; Chenghong Deng; Kejia Zhang; Sheng-Jia Lin; Reza Maroofian; Rauan Kaiyrzhanov; Renee Lin; Irem Karagoz; Annarita Scardamaglia; Daniel Owrang; Valentina Turchetti; Friederike Jahnke; Cassidy Petree; Anna V Derrick; Mark I Rees; Javeria Raza Alvi; Tipu Sultan; Chumei Li; Marie-Line Jacquemont; Frederic Tran-Mau-Them; Maria Valenzuela-Palafoll; Rich Sidlow; Grace Yoon; Michelle Morrow; Alexis Carere; Mary O’Connor; Julie Fleischer; Erica H Gerkes; Chanika Phornphutkul; Bertrand Isidor; Clotilde Rivier-Ringenbach; Christophe Philippe; Semra H Kurul; Didem Soydemir; Bulent Kara; Deniz Sunnetci-Akkoyunlu; Viktoria Bothe; Konrad Platzer; Dagmar Wieczorek; Margarete Koch-Hogrebe; Nils Rahner; Ann-Charlotte Thuresson; Hans Matsson; Carina Frykholm; Sevcan Tuğ Bozdoğan; Atıl Bişgin; Nicolas Chatron; Gaetan Lesca; Sara Cabet; Zeynep Tümer; Tina D Hjortshøj; Gitte Rønde; Thorsten Marquardt; Janine Reunert; Erum Afzal; Mina Zamani; Reza Azizimalamiri; Hamid Galehdari; Pardis Nourbakhshd; Niloofar Chamanrou; Seo-Kyung Chung; Mohnish Suri; Paul J Benke; Maha S Zaki; Joseph G Gleeson; Daniel G Calame; Davut Pehlivan; Halil I Yilmaz; Alper Gezdirici; Aboulfazl Rad; Iman Sabri Abumansour; Gabriela Oprea; Jai Sidpra; Kshitij Mankad; Barbara Vona; Andrew E Fry; Gaurav K Varshney; Henry Houlden; Dragony Fu
Conference
Javey, Elodie; Demeer, Bénédicte; Sklirou, Evgenia; Geneviève, David; Perrin, Laurence; Bessis, Didier; Boute, Odile; Alessandri, Jean-Luc; Spodenkiewicz, Marta; Jacquemont, Marie-Line; Servel, Julie; Busa, Tiffany; Bonniaud, Bertille; Ruaud, Lyse; Bourrat, Emmanuelle; Dupont, Juliette; Gerkes, Erica; J. Lunsing, Roelineke; Baynam, Gareth; Lalani, Seema; Glass, Ian; Lahr, Ashley; Allworth, Aimee; Streff, Haley; Valenzuela Palafoll, Irene; Codina, Marta; Kerschen, Philippe; Scheidecker, Sophie; Schaefer, Elise; Schalk, Audrey; Chassaing, Nicolas; Goldenberg, Alice; Lehalle, Daphné; Rodriguez, Diana; Martel, Jehanne; Vabres, Pierre; Kuentz, Paul; Piard, Juliette; Sorlin, Arthur
Academic Journal
Rocatcher, Aude; Desquiret-Dumas, Valérie; Charif, Majida; Ferré, Marc; Gohier, Philippe; Mirebeau-Prunier, Delphine; Verny, Christophe; Milea, Dan; Lenaers, Guy; Vignal, Catherine; Lamirel, Cédric; Hage, Rabih; Dollfus, Hélène; Meunier, Isabelle; Zanlonghi, Xavier; Touitou, Valérie; Lebranchu, Pierre; Odent, Sylvie; Tilikete, Caroline Froment; Jeanjean, Luc; Defoort-Dhellemmes, Sabine; Drumare-Bouvet, Isabelle; Smirnov, Vasily; Vincent-Delorme, Catherine; Biotti, Damien; Varenne, Fanny; Calvas, Patrick; Chassaing, Nicolas; Cohen, Mickael; Orssaud, Christophe; Mochel, Fanny; Roubertie, Agathe; Toutain, Annick; Pollet-Villard, Frédéric; Dupeyron, Marie Noelle Bonnet; Boulicot, Céline; Cochener, Béatrice; Goldenberg, Alice; Jacquemont, Marie Line; Francannet, Christine; Bonneau, Dominique; Reynier, Pascal; Amati-Bonneau, Patrizia
Brain. 146:455-460
Academic Journal
Lottie D. Morison; Olivia van Reyk; Elana Forbes; Flavien Rouxel; Laurence Faivre; Fiona Bruinsma; Marie Vincent; Marie-Line Jacquemont; Natalie L. Dykzeul; David Geneviève; David J. Amor; Angela T. Morgan
European Journal of Human Genetics. 31:793-804
Academic Journal
Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valérie; 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; Megarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, 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
J Med Genet
JOURNAL OF MEDICAL GENETICS
JOURNAL OF MEDICAL GENETICS
Academic Journal
Caron, Véronique ; Chassaing, Nicolas ; Ragge, Nicola ; Boschann, Felix ; Ngu, Angelina My-Hoa ; Meloche, Elisabeth ; Chorfi, Sarah ; Lakhani, Saquib A. ; Ji, Weizhen ; Steiner, Laurie ; Marcadier, Julien ; Jansen, Philip R. ; van de Pol, Laura A. ; van Hagen, Johanna M. ; Russi, Alvaro Serrano ; Le Guyader, Gwenaël ; Nordenskjöld, Magnus ; Nordgren, Ann ; Anderlid, Britt-Marie ; Plaisancié, Julie ; Stoltenburg, Corinna ; Horn, Denise ; Drenckhahn, Anne ; Hamdan, Fadi F. ; Lefebvre, Mathilde ; Attie-Bitach, Tania ; Forey, Peggy ; Smirnov, Vasily ; Ernould, Françoise ; Jacquemont, Marie-Line ; Grotto, Sarah ; Alcantud, Alberto ; Coret, Alicia ; Ferrer-Avargues, Rosario ; Srivastava, Siddharth ; Vincent-Delorme, Catherine ; Romoser, Shelby ; Safina, Nicole ; Saade, Dimah ; Lupski, James R. ; Calame, Daniel G. ; Geneviève, David ; Chatron, Nicolas ; Schluth-Bolard, Caroline ; Myers, Kenneth A. ; Dobyns, William B. ; Calvas, Patrick ; Salmon, Caroline ; Holt, Richard ; Elmslie, Frances ; Allaire, Marc ; Prigozhin, Daniil M. ; Tremblay, André ; Michaud, Jacques L.
In Genetics in Medicine August 2023 25(8)
Academic Journal
Morison, Lottie D.; van Reyk, Olivia; Forbes, Elana; Rouxel, Flavien; Faivre, Laurence; Bruinsma, Fiona; Vincent, Marie; Jacquemont, Marie-Line; Dykzeul, Natalie L.; Geneviève, David; Amor, David J.; Morgan, Angela T.
European Journal of Human Genetics. 31(7):793-804
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. Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Chinnery, Patrick F.; Ratnaike, Thiloka; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Jean-Marçais, Nolwenn ; López-Martín, Estrella ; Macek, Milan ; Mencarelli, Maria Antonietta ; Moutton, Sébastien ; Pfundt, Rolph ; Safraou, Hana ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Tran Mau-Them, Frédéric ; de Vries, Bert B.A. ; Willemsen, Marjolein H. ; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Lottie D. Morison; Olivia van Reyk; Elana Forbes; Flavien Rouxel; Laurence Faivre; Fiona Bruinsma; Marie Vincent; Marie-Line Jacquemont; Natalie L. Dykzeul; David Geneviève; David J. Amor; Angela T. Morgan
European Journal of Human Genetics.
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