학술논문
'학술논문'
에서 검색결과 68건 | 목록
10~20
Academic Journal
American Journal of Medical Genetics. Part A; Dec2020, Vol. 182 Issue 12, p3060-3063, 4p
Periodical
Chowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J.; Baxová, Alice; Bendová, Šárka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J.; Froukh, Tawfiq; Gunay-Aygun, Meral; Hančárová, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M.; Magriña, Maria A.; Mark, Paul R.; McDonald, Marie T.; Montgomery, Sarah; Morley, Gina M.; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedláček, Zdeněk; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S.; Wheeler, Patricia G.; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M.; Lalani, Seema R.; Siu, Victoria M.; Bi, Weimin; Balci, Tugce B.
Genetics in Medicine; July 2021, Vol. 23 Issue: 7 p1234-1245, 12p
Academic Journal
Stolz, Jacob R.; Foote, Kendall M.; Veenstra-Knol, Hermine E.; Pfundt, Rolph; ten Broeke, Sanne W.; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin P.; Lawson, John A.; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J.; Rogers, R. Curtis; Davis, Jessica M.; Innes, A. Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M.; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q.C.M.; Peeters-Scholte, Cacha M.P.C.D.; Ruivenkamp, Claudia A.L.; van Bon, Bregje W.; Kennedy, Joanna; Low, Karen J.; Ellard, Sian; Pang, Lewis; Junewick, Joseph J.; Mark, Paul R.; Carvill, Gemma L.; Swanson, Geoffrey T.
American Journal of Human Genetics. September 2, 2021, Vol. 108 Issue 9, 1692
Academic Journal
Cold Spring Harbor Molecular Case Studies; Aug2020, Vol. 6 Issue 4, p1-6, 6p
Academic Journal
Cardiology in the Young; Aug2021, Vol. 31 Issue 8, p1368-1370, 3p
Academic Journal
Prasov, Lev; Ullah, Ehsan; Turriff, Amy E.; Warner, Blake M.; Conley, Julie; Mark, Paul R.; Hufnagel, Robert B.; Huryn, Laryssa A.
American Journal of Medical Genetics. Part A; Mar2020, Vol. 182 Issue 3, p493-497, 5p
Academic Journal
Zarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry‐Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada‐Veras, Juvianee I.; Dooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Esch, Hilde
Human Mutation; Aug2019, Vol. 40 Issue 8, p1013-1029, 17p
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
Academic Journal
Chowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J.; Baxová, Alice; Bendová, Šárka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J.; Froukh, Tawfiq; Gunay-Aygun, Meral; Hančárová, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M.; Magriña, Maria A.; Mark, Paul R.; McDonald, Marie T.; Montgomery, Sarah; Morley, Gina M.; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedláček, Zdeněk; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S.; Wheeler, Patricia G.; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M.; Lalani, Seema R.; Siu, Victoria M.; Bi, Weimin; Balci, Tugce B.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(7):1234-1245
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[AR] Mark, Paul R.
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