학술논문
'학술논문'
에서 검색결과 32건 | 목록
1~10
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
Kuroda, Yukiko; Iwata-Otsubo, Aiko; Dias, Kerith-Rae; Temple, Suzanna E.L.; Nagao, Koji; De Hayr, Lachlan; Zhu, Ying; Isobe, Shin-Ya; Nishibuchi, Gohei; Fiordaliso, Sarah K.; Fujita, Yuki; Rippert, Alyssa L.; Baker, Samuel W.; Leung, Marco L.; Koboldt, Daniel C.; Harman, Adele; Keena, Beth A.; Kazama, Izumi; Subramanian, Gopinath Musuwadi; Manickam, Kandamurugu; Schmalz, Betsy; Latsko, Maeson; Zackai, Elaine H.; Edwards, Matt; Evans, Carey-Anne; Dulik, Matthew C.; Buckley, Michael F.; Yamashita, Toshihide; O'Brien, W. Timothy; Harvey, Robert J.; Obuse, Chikashi; Roscioli, Tony; Izumi, Kosuke
In Genetics in Medicine July 2023 25(7)
Academic Journal
Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M.R.; Sullivan, Jennifer A.; Asleh, Ayat N.; Mitra, Jaba; Dar, Mohamad A.; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A.; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R.; Littlejohn, Rebecca Okashah; Dibra, Harpreet K.; Byrd, Philip J.; Stewart, Grant S.; Geckinli, Bilgen B.; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E.; O’Donnell-Luria, Anne; Mau-Them, Frédéric Tran; Juven, Aurélien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F.; Thauvin, Christel; Essien Umanah, George K.; Van Maldergem, Lionel; Lupski, James R.; Roscioli, Tony; Dawson, Valina L.; Dawson, Ted M.; Antonarakis, Stylianos E.
In The American Journal of Human Genetics 2 March 2023 110(3):499-515
Academic Journal
Forwood, Caitlin; Ashton, Katie; Zhu, Ying; Zhang, Futao; Dias, Kerith‐Rae; Standen, Krystle; Evans, Carey‐Anne; Carey, Louise; Cardamone, Michael; Shalhoub, Carolyn; Katf, Hala; Riveros, Carlos; Hsieh, Tzung‐Chien; Krawitz, Peter; Robinson, Peter N; Dudding‐Byth, Tracy; Sadikovic, Bekim; Pinner, Jason; Buckley, Michael F.; Roscioli, Tony
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2023, Vol. 193 Issue 3, p1-7, 7p
Academic Journal
Ewans, Lisa J.; Minoche, Andre E.; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Adès, Lesley C.; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P.; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F.; Cowley, Mark J.; Dinger, Marcel E.; Roscioli, Tony
European Journal of Human Genetics. 30(10):1121-1131
Academic Journal
Stephenson, Sarah E.M.; Costain, Gregory; Blok, Laura E.R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P.Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Ange-line; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E.L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogné, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Friðriksdóttir, Rún; Katrínardóttir, Hildigunnur; Sulem, Patrick; Stefánsson, Kári; Björnsson, Hans Tómas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang
American Journal of Human Genetics. April 7, 2022, Vol. 109 Issue 4, 601
Periodical
Dias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E.R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Guillen Sacoto, Maria J.; Mullegama, Sureni V.; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony
Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1952-1966, 15p
Academic Journal
Dias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony
Academic Journal
Jacobs, Chris; Hanson, Theo; Planner, Jessica; Hoeper, Olivia; Wilson, Alyssa; Evans, Carey-Anne; Sheahan-Endries, Mary Ruth; Wilson, Meredith; Chung, Clara; Rajagopalan, Sulekha; McEwen, Alison; Roscioli, Tony
Academic Journal
Dias, Kerith-Rae; Begemann, Anais; Blok, Laura; Long, Jingyi; De Hayr, Lachlan; Evans, Carey-Anne; Zhu, Ying; Field, Mike; Ma, Alan; Leffler, Melanie; Ades, Lesley; Josephi-Taylor, Sarah; Pfundt, Rolph; Zaki, Maha; Tomoum, Hoda; Houlden, Henry; Rocca, Clarissa; Efthymiou, Stephanie; Gregor, Anne; Reis, Andre; Maddirevula, Sateesh; Zweier, Markus; Alkuraya, Fowzan; Buckley, Michael; Maroofian, Reza; Gleeson, Joseph; Coll-Tane, Mireia; Koolen, David; Harvey, Robert; Zweier, Christiane; Schenck, Annette; Roscioli, Tony; Rauch, Anita
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[AR] Evans, Carey-Anne
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