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
Yigit, Gökhan; Sheffer, Ruth; Daana, Muhannad; Yun Li; Kaygusuz, Emrah; Mor-Shakad, Hagar; Altmüller, Janine; Nürnberg, Peter; Douiev, Liza; Kaulfuss, Silke; Burfeind, Peter; Wollnik, Bernd; Brockmann, Knut
Journal of Medical Genetics; Jun2022, Vol. 59 Issue 6, p549-553, 5p
Academic Journal
Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M.S.; Giltay, Jacques C.; Cogné, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W.; Faurie, Eva; Schot, Rachel; Stevens, Cathy A.; Smits, Daphne J.; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A.; Stimach, Chandler L.; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H.; Hurst, Anna C.E.; Smith, Kirstin; Baugh, Evan H.; Bohm, Suzanne G.; Vyhnálková, Emílie; Ryba, Lukás; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A.; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frédéric; Berger, Seth I.; Smith, Ann C.M.; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krüger, Elke; Margueron, Raphaël; Bézieau, Stéphane; Poschmann, Jeremie; Isidor, Bertrand
American Journal of Human Genetics. February 3, 2022, Vol. 109 Issue 2, 361
Academic Journal
Khateb, Samer; Shemesh, Aya; Offenheim, Ashly; Sheffer, Ruth; Ben-Yosef, Tamar; Chowers, Itay; Leibu, Rina; Baumann, Britta; Wissinger, Bernd; Kohl, Susanne; Banin, Eyal; Sharon, Dror
Molecular Vision; 2022, Vol. 28, p21-28, 8p
Academic Journal
Ramot, Yuval; Sayama, Koji; Sheffer, Ruth; Doviner, Victoria; Hiller, Nurith; Kaufmann-Yehezkely, Michal; Zlotogorski, Abraham
In International Journal of Pediatric Otorhinolaryngology 2010 74(7):825-827
Periodical
Yigit, Go¨khan; Sheffer, Ruth; Daana, Muhannad; Li, Yun; Kaygusuz, Emrah; Mor-Shakad, Hagar; Altmu¨ller, Janine; Nu¨rnberg, Peter; Douiev, Liza; Kaulfuss, Silke; Burfeind, Peter; Wollnik, Bernd; Brockmann, Knut
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 6 p549-553, 5p
Periodical
Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie; Stapleton, Rachel; Saida, Ken; Matsumoto, Naomichi; Miyake, Noriko; Sheffer, Ruth; Mor-Shaked, Hagar; Barnett, Christopher P; Byrne, Alicia B; Scott, Hamish S; Kraus, Alison; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Iorio, Raffaele; Di Dato, Fabiola; Pais, Lynn S; Yeung, Alison; Tan, Tiong Y; Taylor, Jenny C; Christodoulou, John; White, Susan M
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 5 p511-516, 6p
Academic Journal
Klebe, Stephan; Lossos, Alexander; Azzedine, Hamid; Mundwiller, Emeline; Sheffer, Ruth; Gaussen, Marion; Marelli, Cecilia; Nawara, Magdalena; Carpentier, Wassila; Meyer, Vincent; Rastetter, Agnès; Martin, Elodie; Bouteiller, Delphine; Orlando, Laurent; Gyapay, Gabor; El-Hachimi, Khalid H; Zimmerman, Batel; Gamliel, Moriya; Misk, Adel; Lerer, Israela
Academic Journal
Tan, Natalie B.; Pagnamenta, Alistair T.; Ferla, Matteo P.; Gadian, Jonathan; Chung, Brian H. Y.; Chan, Marcus C. Y.; Fung, Jasmine L. F.; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie; Stapleton, Rachel; Saida, Ken; Matsumoto, Naomichi; Miyake, Noriko; Sheffer, Ruth; Mor-Shaked, Hagar; Barnett, Christopher P.; Byrne, Alicia B.; Scott, Hamish S.; Kraus, Alison; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Iorio, Raffaele; Di Dato, Fabiola; Pais, Lynn S.; Yeung, Alison; Tan, Tiong Y.; Taylor, Jenny C.; Christodoulou, John; White, Susan M.
Academic Journal
Yigit, Gokhan; Sheffer, Ruth; Daana, Muhannad; Li, Yun; Kaygusuz, Emrah; Mor-Shakad, Hagar; Altmueller, Janine; Nuernberg, Peter; Douiev, Liza; Kaulfuss, Silke; Burfeind, Peter; Wollnik, Bernd; Brockmann, Knut
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