학술논문
'학술논문'
에서 검색결과 1,319건 | 목록
160~170
Academic Journal
Academic Journal
Aldahmesh, Mohammed A.; Humeidan, Amal; Almojalli, Hamad A.; Khan, Arif O.; Rajab, Mohammed; AL-Abbad, Abbas A.; F. Meyer, Brian; Alkuraya, Fowzan S.
Academic Journal
Periodical
Thomas, Quentin; Gautier, Thierry; Marafi, Dana; Besnard, Thomas; Willems, Marjolaine; Moutton, Sébastien; Isidor, Bertand; Cogné, Benjamin; Conrad, Solène; Tenconi, Romano; Iascone, Maria; Sorlin, Arthur; Masurel, Alice; Dabir, Tabib; Jackson, Adam; Banka, Siddharth; Delanne, Julian; Lupski, James R.; Saadi, Nebal Waill; Alkuraya, Fowzan S.; Zahrani, Fatema Al; Agrawal, Pankaj B.; England, Eleina; Madden, Jill A.; Posey, Jennifer E.; Burglen, Lydie; Rodriguez, Diana; Chevarin, Martin; Nguyen, Sylvie; Mau-Them, Frédéric Tran; Duffourd, Yannis; Garret, Philippine; Bruel, Ange-Line; Callier, Patrick; Marle, Nathalie; Denomme-Pichon, Anne-Sophie; Duplomb, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel; Govin, Jérôme; Faivre, Laurence; Vitobello, Antonio
Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1901-1911, 11p
Periodical
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.; Fowler, Ben; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K.
Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1933-1943, 11p
Academic Journal
Weining Lu; Quintero-Rivera, Fabiola; Yanli Fan; Alkuraya, Fowzan S.; Donovan, Diana J.; Qiongchao Xi; Turbe-Doan, Annick; Qing-Gang Li; Campbell, Craig G.; Shanske, Alan L.; Sherr, Elliott H.; Ahmad, Ayesha; Peters, Roxana; Rilliet, Benedict; Parvex, Paloma; Bassuk, Alexander G.; Harris, David J.; Ferguson, Heather; Kelly, Chantal; Walsh, Christopher A.
Academic Journal
Academic Journal
Thomas, Quentin; Gautier, Thierry; Marafi, Dana; Besnard, Thomas; Willems, Marjolaine; Moutton, Sébastien; Isidor, Bertand; Cogné, Benjamin; Conrad, Solène; Tenconi, Romano; Iascone, Maria; Sorlin, Arthur; Masurel, Alice; Dabir, Tabib; Jackson, Adam; Banka, Siddharth; Delanne, Julian; Lupski, James R.; Saadi, Nebal Waill; Alkuraya, Fowzan S.; Zahrani, Fatema Al; Agrawal, Pankaj B.; England, Eleina; Madden, Jill A.; Posey, Jennifer E.; Burglen, Lydie; Rodriguez, Diana; Chevarin, Martin; Nguyen, Sylvie; Mau-Them, Frédéric Tran; Duffourd, Yannis; Garret, Philippine; Bruel, Ange-Line; Callier, Patrick; Marle, Nathalie; Denomme-Pichon, Anne-Sophie; Duplomb, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel; Govin, Jérôme; Faivre, Laurence; Vitobello, Antonio
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):1901-1911
Academic Journal
Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Héron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O’Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Öznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1715-1725
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[AR] Alkuraya, Fowzan S.
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