학술논문
'학술논문'
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1~10
Academic Journal
Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O’Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Bönnemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Töpf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O’Donnell-Luria, Anne
In The American Journal of Human Genetics 2 May 2024 111(5):863-876
Academic Journal
Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O’Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Adès, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Pérez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O’Donnell-Luria, Anne; Roscioli, Tony
In Genetics in Medicine May 2024 26(5)
Academic Journal
Tooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M.A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M.J.; Twigg, Stephen R.F.; Wilkie, Andrew O.M.
In Genetics in Medicine September 2023 25(9)
Cognitive, academic, and behavioral functioning in school-aged children born with esophageal atresia
Academic Journal
Burnett, Alice C.; Gunn-Charlton, Julia K.; Malarbi, Stephanie; Hutchinson, Esther; Tan, Tiong Yang; Teague, Warwick J.; King, Sebastian K.; Hunt, Rod W.
In Journal of Pediatric Surgery October 2021 56(10):1737-1744
Academic Journal
Scala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Björn; Monaghan, Kristin G; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Gabau Vila, Elisabeth; Mak, Bryan C; Martinez-Agosto, Julian A; Gorin, Michael B; Duz, Bugrahan; Bayram, Yavuz; Carvalho, Claudia MB; Vengoechea, Jaime E; Chitayat, David; Tan, Tiong Yang; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano, Pasquale; Nigro, Vincenzo; Severino, Mariasavina; Capra, Valeria; Costain, Gregory; Nagata, Koh Ichi
Brain : a journal of neurology. 145(9)
Academic Journal
Malarbi, Stephanie; Chisholm, Anita K.; Gunn-Charlton, Julia K.; Burnett, Alice C.; Tan, Tiong Yang; Cheng, Shirley S. W.; Pellicano, Anastasia; Shand, Jocelyn; Heggie, Andrew; Hunt, Rod W.
Cleft Palate Craniofacial Journal; Jan2024, Vol. 61 Issue 1, p33-39, 7p
Listyasari, Nurin A.; Robevska, Gorjana; Ayers, Katie L.; Tan, Tiong Yang; Sinclair, Andrew H.; Faradz, Sultana M.H.
In Asian Journal of Urology April 2022 9(2):186-189
Academic Journal
Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata JM; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A
American Journal of Human Genetics. 108(1)
Academic Journal
Francis, David I.; Stark, Zornitza; Scheffer, Ingrid E.; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J.; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A.; Krzesinski, Emma I.; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L.; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan
European Journal of Human Genetics. 31(5):521-525
Academic Journal
Kennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia AL; Nibbeling, Esther; Dingemans, Alexander JM; Douine, Emilie D; Nelson, Stanley F; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A; Newbury-Ecob, Ruth
Genetics in Medicine. 21(4)
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