학술논문
'학술논문'
에서 검색결과 143건 | 목록
1~10
Academic Journal
Alshawsh, Mohammed; Wake, Melissa; Gecz, Jozef; Corbett, Mark; Saffery, Richard; Pitt, James; Greaves, Ronda; Williams, Katrina; Field, Michael; Cheong, Jeanie; Bui, Minh; Arora, Sheena; Sadedin, Simon; Lunke, Sebastian; Wall, Meg; Amor, David J; Godler, David E
Epigenomics; 2024, Vol. 16 Issue 18, p1203-1214, 12p
Academic Journal
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
Amarasekera, Sumudu S C; Hock, Daniella H; Lake, Nicole J; Calvo, Sarah E; Grønborg, Sabine W; Krzesinski, Emma I; Amor, David J; Fahey, Michael C; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; Østergaard, Elsebet; Christodoulou, John; Thorburn, David R; Stroud, David A; Compton, Alison G
Human Molecular Genetics; Aug2023, Vol. 32 Issue 15, p2441-2454, 14p
Academic Journal
Vos, Niels; Reilly, Jack; Elting, Mariet W; Campeau, Philippe M; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J; Kaur, Simran; StJohn, Miya; Morgan, Angela T; Kamien, Benjamin A; Patel, Chirag; Tedder, Matthew L; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John
Epigenomics; Mar2023, Vol. 15 Issue 6, p351-367, 17p
Periodical
Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; Fisher, Simon E; Zweier, Christiane; Morgan, Angela T
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 6 p597-607, 11p
Academic Journal
Marsh, Ashley PL; Heron, Delphine; Edwards, Timothy J; Quartier, Angélique; Galea, Charles; Nava, Caroline; Rastetter, Agnès; Moutard, Marie-Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A; McGillivray, George; McIlroy, Alissandra; Méneret, Aurélie; Mignot, Cyril; Morcom, Laura R; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah EM; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attié-Bitach, Tania; Delatycki, Martin B; Mandel, Jean-Louis; Amor, David J; Roze, Emmanuel; Piton, Amélie; Bahlo, Melanie; Billette de Villemeur, Thierry; Sherr, Elliott H; Leventer, Richard J; Richards, Linda J; Lockhart, Paul J; Depienne, Christel
Nature Genetics. 49(4)
Academic Journal
Braden, Ruth O; Amor, David J; Fisher, Simon E; Mei, Cristina; Myers, Candace T; Mefford, Heather; Gill, Deepak; Srivastava, Siddharth; Swanson, Lindsay C; Goel, Himanshu; Scheffer, Ingrid E; Morgan, Angela T
Academic Journal
Kaiser, Frank J; Ansari, Morad; Braunholz, Diana; Concepción Gil-Rodríguez, María; Decroos, Christophe; Wilde, Jonathan J; Fincher, Christopher T; Kaur, Maninder; Bando, Masashige; Amor, David J; Atwal, Paldeep S; Bahlo, Melanie; Bowman, Christine M; Bradley, Jacquelyn J; Brunner, Han G; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C; Francey, Lauren J; Gehlken, Ulrike; Guillén-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M; Yntema, Helger; Innes, A Micheil; Kline, Antonie D; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B; Mannini, Linda; McKee, Shane; Mehta, Sarju G; Micule, Ieva; Care4Rare Canada Consortium; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R; Moser, Joe-Ann S; Noon, Sarah E; Nozaki, Naohito; Nunes, Luis; Pappas, John G; Penney, Lynette S; Pérez-Aytés, Antonio; Petersen, Michael B; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E; Schindeler, Karen L; Siu, Victoria M; Stark, Zornitza; Strom, Samuel P; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C; University of Washington Center for Mendelian Genomics; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J; Jackson, Laird G; Shirahige, Katsuhiko; Pié, Juan; Christianson, David W; Krantz, Ian D; Fitzpatrick, David R; Deardorff, Matthew A
Human molecular genetics. 23(11)
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[AR] Amor, David J
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