학술논문
'학술논문'
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1~10
Academic Journal
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina GS; Signer, Rebecca H; Undiagnosed Diseases Network; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P
Genetics in medicine : official journal of the American College of Medical Genetics. 23(8)
Academic Journal
Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Élise; Tan, Thong-Teck; Eio, Michelle Y; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M; Gunay-Aygun, Meral; Muriello, Michael J; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michèl AAP; Oegema, Renske; Mitchell, Wendy G; Pierson, Tyler Mark; Andrews, Marisa V; Willing, Marcia C; Rodan, Lance H; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M; Hashem, Mais O; AlSayed, Moeenaldeen D; Abdulrahim, Maha M; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel AH; Faqeih, Eissa A; Asmari, Ali Al; Algain, Sulwan M; Jad, Lamyaa A; Aldhalaan, Hesham M; Helbig, Ingo; Koolen, David A; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E; Klee, Eric W; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schüle, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A; Stewart, James C; Claridge-Chang, Adam; Lefeber, Dirk J; Alkuraya, Fowzan S; Mathuru, Ajay S; Venkatesh, Byrappa; Barycki, Joseph J; Simpson, Melanie A; Jamuar, Saumya S; Schöls, Ludger; Reversade, Bruno
Nature communications. 11(1)
Academic Journal
Palmer, Elizabeth E; Hong, Seungbeom; Zahrani, Fatema Al; Hashem, Mais O; Aleisa, Fajr A; Ahmed, Heba M Jalal; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P; Cowley, Mark J; Dinger, Marcel; Rosenfeld, Jill A; Xiao, Rui; Cho, Megan T; Yakubu, Suliat F; Henderson, Lindsay B; Sacoto, Maria J Guillen; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V; Jones, Marilyn C; Lindstrom, Kristin; Bristol, Ruth E; Kayani, Saima; Snyder, Molly; Villanueva, María Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Merzaban, Jasmeen; Jaremko, Łukasz; Jaremko, Mariusz; Sachdev, Rani K; Alkuraya, Fowzan S; Arold, Stefan T
American Journal of Human Genetics. 104(3)
Academic Journal
Küry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xénia; Towne, Meghan C; Cho, Megan T; Prescott, Trine E; Ploeg, Melissa A; Sanders, Stephan; Stessman, Holly AF; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje WM; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen LI; Juusola, Jane; Foss, Kimberly; Enns, Gregory M; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia AL; Hahn, Sihoun; Brownstein, Catherine A; Xia, Fan; Schmitt, Sébastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R; Thies, Jenny; Peart-Vissers, Lisenka ELM; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M; Dubourg, Christèle; Network, Undiagnosed Diseases; Tan, Wen-Hann; Verbeek, Nienke E; Granzow, Martin; Santen, Gijs WE; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W; Kleefstra, Tjitske; Cogné, Benjamin; HUGO, GEM; Study, Deciphering Developmental Disorders; Petrovski, Slavé; Retterer, Kyle
American Journal of Human Genetics. 101(5)
Academic Journal
Wambach, Jennifer A; Wegner, Daniel J; Yang, Ping; Shinawi, Marwan; Baldridge, Dustin; Betleja, Ewelina; Shimony, Joshua S; Spencer, David; Hackett, Brian P; Andrews, Marisa V; Ferkol, Thomas; Dutcher, Susan K; Mahjoub, Moe R; Cole, F Sessions
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