학술논문
'학술논문'
에서 검색결과 131건 | 목록
1~10
Academic Journal
Robertson, Eden G.; Roberts, Natalie J.; Le Marne, Fleur; Beavis, Erin; Macintosh, Rebecca; Kelada, Lauren; Best, Stephanie; Goranitis, Ilias; Pierce, Kristine; Gill, Deepak; Sachdev, Rani; Bye, Ann; Palmer, Elizabeth E.
In European Journal of Paediatric Neurology November 2023 47:94-104
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
Nevin, Suzanne M.; Wakefield, Claire E.; Dadich, Ann; LeMarne, Fleur; Macintosh, Rebecca; Beavis, Erin; Sachdev, Rani; Bye, Ann; Nunn, Kenneth; Palmer, Elizabeth E.
In PEC Innovation December 2022 1
Academic Journal
Nevin, Suzanne M.; Wakefield, Claire E.; Le Marne, Fleur; Beavis, Erin; Macintosh, Rebecca; Sachdev, Rani; Bye, Ann; Palmer, Elizabeth E.; Nunn, Kenneth
In European Journal of Paediatric Neurology March 2022 37:129-138
Academic Journal
Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M.S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko
In Genetics in Medicine October 2021 23(10):1873-1881
Academic Journal
Nevin, Suzanne M.; Le Marne, Fleur A.; Beavis, Erin; Macintosh, Rebecca; Palmer, Elizabeth E.; Sachdev, Rani; Nunn, Kenneth; Bye, Ann
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Academic Journal
Kooshavar, Daniz; Amor, David J; Boggs, Kirsten; Baker, Naomi; Barnett, Christopher; Silva, Michelle G de; Edwards, Samantha; Fahey, Michael C; Marum, Justine E; Snell, Penny; Bozaoglu, Kiymet; Pope, Kate; Mohammad, Shekeeb S; Riney, Kate; Sachdev, Rani; Scheffer, Ingrid E; Schenscher, Sarah; Silberstein, John; Smith, Nicholas; Tom, Melanie
Brain Communications; 2024, Vol. 6 Issue 2, p1-10, 10p
Academic Journal
Palmer, Elizabeth; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan; Chedrawi, Aziza; Hashem, Mais; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer; Sands, Tristan; Wilson, Golder; Silvertooth, Erin; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein; Ockeloen, Charlotte; Pfundt, Rolph; Kroft, Sanne; Field, Michael; Laranjeira, Francisco; Fortuna, Ana; Soares, Ana; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David; Bird, Lynne; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe; Blazo, Maria; Bijlsma, Emilia; Rosenfeld, Jill; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb; Armstrong, Ruth; Kalscheuer, Vera
Molecular Psychiatry. 28(2)
Periodical
Harms, Frederike L.; Rexach, Jessica Erin; Efthymiou, Stephanie; Aynekin, Busra; Per, Hüseyin; Güleç, Ayten; Nampoothiri, Sheela; Sampaio, Hugo; Sachdev, Rani; Stoeva, Radka; Myers, Kasiani; Pena, Loren D. M.; Kalfa, Theodosia A.; Chard, Marisa; Klassen, Megan; Pries, Megan; Kutsche, Kerstin
European Journal of Human Genetics: EJHG; May 2024, Vol. 32 Issue: 5 p558-566, 9p
Academic Journal
Robertson, Eden G.; Kelada, Lauren; Best, Stephanie; Goranitis, Ilias; Pierce, Kristine; Roberts, Natalie J; Sachdev, Rani; Le Marne, Fleur; Macintosh, Rebecca; Beavis, Erin; Bye, Annie; Palmer, Elizabeth E.
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[AR] Sachdev, Rani
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