المؤلفون: Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalia T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu^{Aff6, Aff7}, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M^{Aff10, Aff11}, Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C.^{Aff16, Aff17, Aff18}, Kim, Cheol-Hee, Layman, Lawrence C.^{Aff20, Aff21}, Kim, Hyung-Goo^{Aff1, Aff22, IDs41598023400374_cor19}

المصدر: Scientific Reports. 13(1)

المؤلفون: 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

المصدر: In The American Journal of Human Genetics 7 March 2024 111(3):509-528

المؤلفون: Morgan, Angela^{Aff1, Aff2, Aff3, Aff4, Aff5}, Braden, Ruth^{Aff1, Aff2, Aff5}, Wong, Maggie M. K., Colin, Estelle, Amor, David^{Aff1, Aff3, Aff4}, Liégeois, Frederique, Srivastava, Siddharth, Vogel, Adam, Bizaoui, Varoona, Ranguin, Kara, Fisher, Simon E.^{Aff6, Aff12}, van Bon, Bregje W.

المصدر: European Journal of Human Genetics. 29(8):1216-1225

المؤلفون: Huynh, Minh-Tuan^Aff1, Gérard, Marion, Ranguin, Kara, Pichon, Olivier, Ghesh, Leila, Alfallaj, Khalid, Joubert, Madeleine, Bézieau, Stéphane^{Aff1, Aff4}, Bénéteau, Claire

المصدر: neurogenetics. 22(3):195-206

المؤلفون: Lissewski, Christina, Chune, Valérie, Pantaleoni, Francesca, De Luca, Alessandro, Capri, Yline, Brinkmann, Julia, Lepri, Francesca, Daniele, Paola, Leenders, Erika, Mazzanti, Laura, Scarano, Emanuela, Radio, Francesca Clementina, Kutsche, Kerstin, Kuechler, Alma, Gérard, Marion, Ranguin, Kara, Legendre, Marine, Vial, Yoann^{Aff2, Aff13}, van der Burgt, Ineke, Rinne, Tuula, Andreucci, Elena, Mastromoro, Gioia, Digilio, Maria Cristina, Cave, Hélène^{Aff2, Aff13}, Tartaglia, Marco, Zenker, Martin^Aff1

المصدر: European Journal of Human Genetics. 29(1):51-60

المؤلفون: Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F.

المصدر: Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Celeste Simon , M , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Da Silva , R P , Li , D , March , M , Diaz-Rosado , A , de Barcelos , I P , Choa , Z X , Lim , C Y , Dubourg , C , Journel , H , Demurger , F , Mulhern , M , Akman , C , Lippa , N , Andrews , M , Baldridge , D , Constantino , J , van Haeringen , A , Snoeck-Streef , I , Chow , P , Hing , A , Graham , J M , Au , M , Faivre , L , Shen , W , Mao , R , Palumbos , J , Viskochil , D , Gahl , W , Tifft , C , Macnamara , E , Hauser , N , Miller , R , Maffeo , J , Afenjar , A , Doummar , D , Keren , B , Arn , P , Macklin-Mantia , S , Meerschaut , I , Callewaert , B , Reis , A , Zweier , C , Brewer , C , Saggar , A , Smeland , M F , Kumar , A , Elmslie , F , Deshpande , C , Nizon , M , Cogne , B , van Ierland , Y , Wilke , M , van Slegtenhorst , M , Koudijs , S , Chen , J Y , Dredge , D , Pier , D , Wortmann , S , Kamsteeg , E J , Koch , J , Haynes , D , Pollack , L , Titheradge , H , Ranguin , K , Denommé-Pichon , A S , Weber , S , de la Fuente , R P , del Pozo , J S , Rosales , J M L , Joset , P , Steindl , K , Rauch , A , Mei , D , Mari , F , Guerrini , R , Lespinasse , J , Mau-Them , F T , Philippe , C , Dauriat , B , Raymond , L , Moutton , S , Cueto-González , A M , Tan , T Y , Mignot , C , Grotto , S , Renaldo , F , Drivas , T G , Hennessy , L , Raper , A , Parenti , I , Kaiser , F J , Kuechler , A , Busk , Ø L , Islam , L , Siedlik , J A , Henderson , L B , Juusola , J , Person , R , Schnur , R E , Vitobello , A , Banka , S , Bhoj , E J & Stessman , H A F 2023 , ' Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice ' , Science advances , vol. 9 , no. 10 , eade1463 .

مصطلحات الفهرس: article

URL: https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4

المؤلفون: Pavinato, Lisa, Villamor-Paya, Marina, Sanchiz-Calvo, Maria, Andreoli, Cristina, Gay, Marina, Vilaseca, Marta, Arauz-Garofalo, Gianluca, Ciolfi, Andrea, Bruselles, Alessandro, Pippucci, Tommaso, Prota, Valentina, Carli, Diana, Giorgio, Elisa, Radio, Francesca Clementina, Antona, Vincenzo, Giuffre, Mario, Ranguin, Kara, Colson, Cindy, De Rubeis, Silvia, Dimartino, Paola, Buxbaum, Joseph D., Ferrero, Giovanni Battista, Tartaglia, Marco, Martinelli, Simone, Stracker, Travis H., Brusco, Alfredo

مصطلحات الفهرس: ddc:no, doc-type:article, publishedVersion

URL: https://kups.ub.uni-koeln.de/69366/
https://kups.ub.uni-koeln.de/69366
10.1136/jmedgenet-2020-107281

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المؤلفون: Bourgois, Alexia, Bizaoui, Varoona, Ranguin, Kara, Armand, Thibaud, Arpin, Stéphanie, Bonneau, Dominique, El Chehadeh, Salima, Gruchy, Nicolas, Lambert, Laëtitia, Lichtenberger, Lydia, Mathieu, Michèle, Morin, Gilles, Richard, Nicolas, Schaefer, Elise, Godin, Manon, Gérard, Marion, Molin, Arnaud

المساهمون: Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), Service de Génétique [CHU Lyon] (Centre de pathologie de l'Est), Hospices civils de Lyon (HCL), Laboratoire de Génétique Moléculaire [CHU Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, CHU Strasbourg, Centre Hospitalier Universitaire de Nancy (CHU Nancy), Centre Hospitalier d'Abbeville, Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), RANGUIN, Kara

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2d701ac4311fa7e77dd7bb1e2116f511
https://hal.archives-ouvertes.fr/hal-03213023/document

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