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
In Biological Psychiatry 1 April 2023 93(7):622-631
Academic Journal
Kim, Ye Eun; Kim, Yong-Seok; Lee, Hee-Eun; So, Ki Hurn; Choe, Youngshik; Suh, Byung-Chang; Kim, Joung-Hun; Park, Sang Ki; Mathern, Gary W.; Gleeson, Joseph G.; Rah, Jong-Cheol; Baek, Seung Tae
In Cell Reports 31 January 2023 42(1)
Academic Journal
In Med 11 November 2022 3(11):740-759
Academic Journal
Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G.; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T.; Aubertin, Gudrun; Estrada-Veras, Juvianee I.; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L.; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S.; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Ambrose, J.C.; Arumugam, P.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z.; Mora, Sara; Palculict, Timothy B.; Yang, Hui; Wren, Jonathan D.; Ben Fowler; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence, II; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K.
In Genetics in Medicine October 2021 23(10):1933-1943
Academic Journal
Aldinger, Kimberly A.; Timms, Andrew E.; Thomson, Zachary; Mirzaa, Ghayda M.; Bennett, James T.; Rosenberg, Alexander B.; Roco, Charles M.; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi V.; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M.; Alkuraya, Fowzan S.; Biesecker, Leslie G.; Braddock, Stephen R.; Cathey, Sara; Cho, Megan T.; Chung, Brian H.Y.; Everman, David B.; Zarate, Yuri A.; Jones, Julie R.; Schwartz, Charles E.; Goldstein, Amy; Hopkin, Robert J.; Krantz, Ian D.; Ladda, Roger L.; Leppig, Kathleen A.; McGillivray, Barbara C.; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G.; Nickerson, Deborah A.; Bamshad, Michael J.; Gerrelli, Dianne; Lisgo, Steven N.; Seelig, Georg; Ishak, Gisele E.; Barkovich, A. James; Curry, Cynthia J.; Glass, Ian A.; Millen, Kathleen J.; Doherty, Dan; Dobyns, William B.
In The American Journal of Human Genetics 5 September 2019 105(3):606-615
Academic Journal
van Karnebeek, Clara D.M.; Ramos, Rúben J.; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Gleeson, Joseph G.; Skrypnyk, Cristina; Brand-Arzamendi, Koroboshka; Karbassi, Farhad; Issa, Mahmoud Y.; van der Lee, Robin; Drögemöller, Britt I.; Koster, Janet; Rousseau, Justine; Campeau, Philippe M.; Wang, Youdong; Cao, Feng; Li, Meng; Ruiter, Jos; Ciapaite, Jolita; Kluijtmans, Leo A.J.; Willemsen, Michel A.A.P.; Jans, Judith J.; Ross, Colin J.; Wintjes, Liesbeth T.; Rodenburg, Richard J.; Huigen, Marleen C.D.G.; Jia, Zhengping; Waterham, Hans R.; Wasserman, Wyeth W.; Wanders, Ronald J.A.; Verhoeven-Duif, Nanda M.; Zaki, Maha S.; Wevers, Ron A.
In The American Journal of Human Genetics 5 September 2019 105(3):534-548
Academic Journal
Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S.; Gleeson, Joseph G.; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H.; Pachat, Divya; Elmaksoud, Marwa Abd; Chan Jeong, Won; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T.; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar
In The American Journal of Human Genetics October 2023
Academic Journal
Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S.; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H.; Alkhateeb, Mohammad Ayman; Jamra, Rami Abou; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G.; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A.; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jérôme; Tartaglia, Marco; Vitobello, Antonio
In The American Journal of Human Genetics 6 October 2022 109(10):1909-1922
Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA
Academic Journal
In The Journal of Pediatrics November 2015 167(5):957-962
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[AR] Gleeson, Joseph G.
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