학술논문
'학술논문'
에서 검색결과 12건 | 목록
1~10
Academic Journal
Hilary C. Martin; Eugene J. Gardner; Kaitlin E. Samocha; Joanna Kaplanis; Nadia Akawi; Alejandro Sifrim; Ruth Y. Eberhardt; Ana Lisa Taylor Tavares; Matthew D. C. Neville; Mari E. K. Niemi; Giuseppe Gallone; Jeremy McRae; Deciphering Developmental Disorders Study; Caroline F. Wright; David R. FitzPatrick; Helen V. Firth; Matthew E. Hurles
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Deciphering Developmental Disorders Study; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
American journal of human genetics. 102(6)
Academic Journal
Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot RF; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle GM; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie TRM; Draaisma, Jos M; Nicolai, Joost; University of Washington Center for Mendelian Genomics; Yntema, Helger G; Lindstrom, Kristin; de Vries, Bert BA; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Deciphering Developmental Disorders Study; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A; Behunova, Jana; Rehder, Helga; Gordon, Christopher T; Rio, Marlène; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander PA; Stevens, Servi JC; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G; Brunner, Han G; Mancini, Grazia M; Myers, Richard M; Owen, Laurie B; Lim, Ssang-Taek; Stachura, David L; Vissers, Lisenka ELM; Ahn, Eun-Young Erin
American journal of human genetics. 99(3)
Academic Journal
Martin, Hilary C.; Gardner, Eugene J.; Samocha, Kaitlin E.; Kaplanis, Joanna; Akawi, Nadia; Sifrim, Alejandro; Eberhardt, Ruth Y.; Tavares, Ana Lisa Taylor; Neville, Matthew D. C.; Niemi, Mari E. K.; Gallone, Giuseppe; McRae, Jeremy; Deciphering Developmental Disorders Study; Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib
Nature Communications; 1/27/2021, Vol. 12 Issue 1, p1-13, 13p
Academic Journal
Owen, Ceris I.; Bowden, Ramsay; Parker, Michael J.; Patterson, Jo; Patterson, Joan; Price, Sue; Sarkar, Ajoy; Castle, Bruce; Deshpande, Charulatha; Splitt, Miranda; Ghali, Neeti; Dean, John; Green, Andrew J.; Crosby, Charlene; Deciphering Developmental Disorders Study; Tatton‐Brown, Katrina
American Journal of Medical Genetics. Part A; May2018, Vol. 176 Issue 5, p1108-1114, 7p
Academic Journal
Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; et al
Academic Journal
Vaz, Frédéric M; McDermott, John H; Alders, Mariëlle; Wortmann, Saskia B; Kölker, Stefan; Pras-Raves, Mia L; Vervaart, Martin A T; Lenthe, Henk van; Luyf, Angela C M; Elfrink, Hyung L; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E; Yarwood, Rebecca; Lowe, Martin P; Lovell, Simon; Rogers, Richard C; Study, Deciphering Developmental Disorders; Kampen, Antoine H C van; Ruiter, Jos P N; et al
Academic Journal
Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Deciphering Developmental Disorders Study; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.
Nature Genetics. 50(3):329-332
Academic Journal
Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Deciphering Developmental Disorders Study; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.
Nature Genetics. 51(7):1192-1192
Academic Journal
Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.; Deciphering Developmental Disorders Study
Nature Genetics. 50(5):767-767
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[AR] Deciphering Developmental Disorders Study
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