학술논문
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'학술논문'
에서 검색결과 62건 | 목록
1~20
Academic Journal
Alessandro Ferretti; Margherita Furlan; Kevin E. Glinton; Christina D. Fenger; Felix Boschann; Louise Amlie-Wolf; Shimriet Zeidler; Raffaella Moretti; Corinna Stoltenburg; Daniel C. Tarquinio; Francesca Furia; Pasquale Parisi; Guido Rubboli; Orrin Devinsky; Cyril Mignot; Karen W. Gripp; Rikke S. Møller; Yaping Yang; Pawel Stankiewicz; Elena Gardella
Pediatric Neurology. 158:17-25
Academic Journal
Onochie Okoye; Jenina Capasso; Sarina M. Kopinsky; Louise Amlie‐Wolf; Alex V. Levin; Adele Schneider
American Journal of Medical Genetics Part A. 191:2198-2203
Academic Journal
Ashley M, Gefen; Christine B, Sethna; Onur, Cil; Farzana, Perwad; Megan, Schoettler; Mini, Michael; Joseph R, Angelo; Adnan, Safdar; Louise, Amlie-Wolf; Tracy E, Hunley; Jonathan S, Ellison; Daniel, Feig; Joshua, Zaritsky
Pediatric Nephrology. 38:2615-2622
Academic Journal
Amlie-Wolf, Louise; Krol-Buch, Krista; Moyer-Harasink, Sue; Way, Leighanne; Bricker, Maggie; Baker, Laura; Arn, Pamela; Gripp, Karen
Genetics in Medicine Open. 2
Academic Journal
Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E; Venkateswaran, Sunita; Wheeler, Patricia G; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F; Grabińska, Kariona A; Leuzzi, Vincenzo
Brain : a journal of neurology. 145(1):208-223
Academic Journal
Delaware Journal of Public Health. 7:20-23
Academic Journal
Louise Amlie‐Wolf; Tanya Bardakjian; Sarina M. Kopinsky; Linda M. Reis; Elena V. Semina; Adele Schneider
American Journal of Medical Genetics Part A. 188:187-198
Academic Journal
Sarah E. Sheppard; Ian M. Campbell; Margaret H. Harr; Nina Gold; Dong Li; Hans T. Bjornsson; Julie S. Cohen; Jill A. Fahrner; Ali Fatemi; Jacqueline R. Harris; Catherine Nowak; Cathy A. Stevens; Katheryn Grand; Margaret Au; John M. Graham; Pedro A. Sanchez‐Lara; Miguel Del Campo; Marilyn C. Jones; Omar Abdul‐Rahman; Fowzan S. Alkuraya; Jennifer A. Bassetti; Katherine Bergstrom; Elizabeth Bhoj; Sarah Dugan; Julie D. Kaplan; Nada Derar; Karen W. Gripp; Natalie Hauser; A. Micheil Innes; Beth Keena; Neslida Kodra; Rebecca Miller; Beverly Nelson; Malgorzata J. Nowaczyk; Zuhair Rahbeeni; Shay Ben‐Shachar; Joseph T. Shieh; Anne Slavotinek; Andrew K. Sobering; Mary‐Alice Abbott; Dawn C. Allain; Louise Amlie‐Wolf; Ping Yee Billie Au; Emma Bedoukian; Geoffrey Beek; James Barry; Janet Berg; Jonathan A. Bernstein; Cheryl Cytrynbaum; Brian Hon‐Yin Chung; Sarah Donoghue; Naghmeh Dorrani; Alison Eaton; Josue A. Flores‐Daboub; Holly Dubbs; Carolyn A. Felix; Chin‐To Fong; Jasmine Lee Fong Fung; Balram Gangaram; Amy Goldstein; Rotem Greenberg; Thoa K. Ha; Joseph Hersh; Kosuke Izumi; Staci Kallish; Elijah Kravets; Pui‐Yan Kwok; Rebekah K. Jobling; Amy E. Knight Johnson; Jessica Kushner; Bo Hoon Lee; Brooke Levin; Kristin Lindstrom; Kandamurugu Manickam; Rebecca Mardach; Elizabeth McCormick; D. Ross McLeod; Frank D. Mentch; Kelly Minks; Colleen Muraresku; Stanley F. Nelson; Patrizia Porazzi; Pavel N. Pichurin; Nina N. Powell‐Hamilton; Zoe Powis; Alyssa Ritter; Caleb Rogers; Luis Rohena; Carey Ronspies; Audrey Schroeder; Zornitza Stark; Lois Starr; Joan Stoler; Pim Suwannarat; Milen Velinov; Rosanna Weksberg; Yael Wilnai; Neda Zadeh; Dina J. Zand; Marni J. Falk; Hakon Hakonarson; Elaine H. Zackai; Fabiola Quintero‐Rivera
American Journal of Medical Genetics Part A, vol 185, iss 6
Academic Journal
MacPherson, Melissa J. ; Erickson, Sarah L. ; Kopp, Drayden ; Wen, Pengqiang ; Aghanoori, Mohamad-Reza ; Kedia, Shreeya ; Burns, Kaylan M.L. ; Vitobello, Antonio ; Tran Mau-Them, Frederic ; Thomas, Quentin ; Gold, Nina B. ; Brucker, William ; Amlie-Wolf, Louise ; Gripp, Karen W. ; Bodamer, Olaf ; Faivre, Laurence ; Muona, Mikko ; Menzies, Lara ; Baptista, Julia ; Guegan, Katie ; Male, Alison ; Wei, Xing-Chang ; He, Guiqiong ; Long, Quan ; Innes, A. Micheil ; Yang, Guang
In Cell Reports 8 June 2021 35(10)
Academic Journal
Kevin E. Glinton; Anna Hurst; Kevin M. Bowling; Ingrid Cristian; Devon Haynes; Dusit Adstamongkonkul; Oskar Schnappauf; David B. Beck; Carole Brewer; Aditi Parikh; Deepali N. Shinde; Alan Donaldson; Ariel Brautbar; Saskia Koene; Arie van Haeringen; Amélie Piton; Yline Capri; Margherita Furlan; Elena Gardella; Rikke S. Møller; Irma van de Beek; Linda Zuurbier; Phillis Lakeman; Allan Bayat; Julian Martínez; Rebecca Signer; Pernille Mathiesen Tørring; Morten Buch Engelund; Karen W. Gripp; Louise Amlie‐Wolf; Lindsay B. Henderson; Alina T Midro; Eugeniusz Tarasów; Beata Stasiewicz‐Jarocka; Diana Moskal-Jasińska; Paul De Vos; Felix Boschann; Corinna Stoltenburg; Oliver Puk; Inger-Lise Mero; Kristine Lossius; Cyril Mignot; Boris Keren; Johanna Carolina Acosta Guio; Ignacio Briceño; Alberto Gómez; Yaping Yang; Paweł Stankiewicz
Am J Med Genet A
Glinton, K E, Hurst, A C E, Bowling, K M, Cristian, I, Haynes, D, Adstamongkonkul, D, Schnappauf, O, Beck, D B, Brewer, C, Parikh, A S, Shinde, D N, Donaldson, A, Brautbar, A, Koene, S, van Haeringen, A, Piton, A, Capri, Y, Furlan, M, Gardella, E, Møller, R S, van de Beek, I, Zuurbier, L, Lakeman, P, Bayat, A, Martinez, J, Signer, R, Torring, P M, Engelund, M B, Gripp, K W,Amlie -Wolf , L, Henderson, L B, Midro, A T, Tarasów, E, Stasiewicz-Jarocka, B, Moskal-Jasinska, D, Vos, P, Boschann, F, Stoltenburg, C, Puk, O, Mero, I L, Lossius, K, Mignot, C, Keren, B, Acosta Guio, J C, Briceño, I, Gomez, A, Yang, Y & Stankiewicz, P 2021, ' Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ', American Journal of Medical Genetics, Part A, vol. 185, no. 5, pp. 1366-1378 . https://doi.org/10.1002/ajmg.a.62102
Glinton, K E, Hurst, A C E, Bowling, K M, Cristian, I, Haynes, D, Adstamongkonkul, D, Schnappauf, O, Beck, D B, Brewer, C, Parikh, A S, Shinde, D N, Donaldson, A, Brautbar, A, Koene, S, van Haeringen, A, Piton, A, Capri, Y, Furlan, M, Gardella, E, Møller, R S, van de Beek, I, Zuurbier, L, Lakeman, P, Bayat, A, Martinez, J, Signer, R, Torring, P M, Engelund, M B, Gripp, K W,
Academic Journal
Louise Amlie‐Wolf; Laura Baker; Olivia Hiddemen; Morgan Thomas; Christine Burke; Caroline Gluck; Joshua J. Zaritsky; Karen W. Gripp
American Journal of Medical Genetics Part A. 185:1142-1150
Academic Journal
Alka Malhotra; Alban Ziegler; Li Shu; Renee Perrier; Louise Amlie-Wolf; Elizabeth Wohler; Nara Lygia de Macena Sobreira; Estelle Colin; Adeline Vanderver; Omar Sherbini; Katrien Stouffs; Emmanuel Scalais; Alessandro Serretti; Magalie Barth; Benjamin Navet; Paul Rollier; Hui Xi; Hua Wang; Hainan Zhang; Denise L Perry; Alessandra Ferrarini; Roberto Colombo; Alexander Pepler; Adele Schneider; Kiyotaka Tomiwa; Nobuhiko Okamoto; Naomichi Matsumoto; Noriko Miyake; Ryan Taft; Xiao Mao; Dominique Bonneau
Journal of Medical Genetics. 58:712-716
Academic Journal
Christopher C Y Mak; Dan Doherty; Angela E Lin; Nancy Vegas; Megan T Cho; Géraldine Viot; Clémantine Dimartino; James D Weisfeld-Adams; Davor Lessel; Shelagh Joss; Chumei Li; Claudia Gonzaga-Jauregui; Yuri A Zarate; Nadja Ehmke; Denise Horn; Caitlin Troyer; Sarina G Kant; Youngha Lee; Gisele E Ishak; Gordon Leung; Amanda Barone Pritchard; Sandra Yang; Eric G Bend; Francesca Filippini; Chelsea Roadhouse; Nicolas Lebrun; Michele G Mehaffey; Pierre-Marie Martin; Benjamin Apple; Francisca Millan; Oliver Puk; Mariette J V Hoffer; Lindsay B Henderson; Ruth McGowan; Ingrid M Wentzensen; Steven Pei; Farah R Zahir; Mullin Yu; William T Gibson; Ann Seman; Marcie Steeves; Jill R Murrell; Sabine Luettgen; Elizabeth Francisco; Tim M Strom; Louise Amlie-Wolf; Angela M Kaindl; William G Wilson; Sara Halbach; Lina Basel-Salmon; Noa Lev-El; Jonas Denecke; Lisenka E L M Vissers; Kelly Radtke; Jamel Chelly; Elaine Zackai; Jan M Friedman; Michael J Bamshad; Deborah A Nickerson; Russell R Reid; Koenraad Devriendt; Jong-Hee Chae; Elliot Stolerman; Carey McDougall; Zöe Powis; Thierry Bienvenu; Tiong Y Tan; Naama Orenstein; William B Dobyns; Joseph T Shieh; Murim Choi; Darrel Waggoner; Karen W Gripp; Michael J Parker; Joan Stoler; Stanislas Lyonnet; Valérie Cormier-Daire; David Viskochil; Trevor L Hoffman; Jeanne Amiel; Brian H Y Chung; Christopher T Gordon
Brain, 143, 1, pp. 55-68
Brain 143, 55-68 (2020)
Brain 143, 55-68 (2020)
Academic Journal
Academic Journal
Ashley M. Gefen; Christine B. Sethna; Onur Cil; Farzana Perwad; Meg Schoettler; Louise Amlie-Wolf; Jonathan S. Ellison; Daniel Feig; Joshua Zaritsky
Journal of the American Society of Nephrology. 32:613-614
Academic Journal
Ferretti, Alessandro; Furlan, Margherita; Glinton, Kevin E.; Fenger, Christina D.; Boschann, Felix; Amlie-Wolf, Louise; Zeidler, Shimriet; Moretti, Raffaella; Stoltenburg, Corinna; Tarquinio, Daniel C.; Furia, Francesca; Parisi, Pasquale; Rubboli, Guido; Devinsky, Orrin; Mignot, Cyril; Gripp, Karen W.; Møller, Rikke S.; Yang, Yaping; Stankiewicz, Pawel; Gardella, Elena
Academic Journal
McKnight, Dianalee; Morales, Ana; Hatchell, Kathryn E.; Bristow, Sara L.; Bonkowsky, Joshua L.; Perry, Michael Scott; Berg, Anne T.; Borlot, Felippe; Esplin, Edward D.; Moretz, Chad; Angione, Katie; Ríos-Pohl, Loreto; Nussbaum, Robert L.; Aradhya, Swaroop; Haldeman-Englert, Chad R.; Levy, Rebecca J.; Parachuri, Venu G.; Lay-Son, Guillermo; De Montellano, David J. Dávila-Ortiz; Ramirez-Garcia, Miguel Angel; Benítez Alonso, Edmar O.; Ziobro, Julie; Chirita-Emandi, Adela; Felix, Temis M.; Kulasa-Luke, Dianne; Megarbane, Andre; Karkare, Shefali; Chagnon, Sarah L.; Humberson, Jennifer B.; Assaf, Melissa J.; Silva, Sebastian; Zarroli, Katherine; Boyarchuk, Oksana; Nelson, Gary R.; Palmquist, Rachel; Hammond, Katherine C.; Hwang, Sean T.; Boutlier, Susan B.; Nolan, Melinda; Batley, Kaitlin Y.; Chavda, Devraj; Reyes-Silva, Carlos Alberto; Miroshnikov, Oleksandr; Zuccarelli, Britton; Amlie-Wolf, Louise; Wheless, James W.; Seinfeld, Syndi; Kanhangad, Manoj; Freeman, Jeremy L.; Monroy-Santoyo, Susana; Rodriguez-Vazquez, Natalia; Ryan, Monique M.; Machie, Michelle; Guerra, Patricio; Hassan, Muhammad Jawad; Candee, Meghan S.; Bupp, Caleb P.; Park, Kristen L.; Muller, Eric; Lupo, Pamela; Pedersen, Robert C.; Arain, Amir M.; Murphy, Andrea; Schatz, Krista; Mu, Weiyi; Kalika, Paige M.; Plaza, Lautaro; Kellogg, Marissa A.; Lora, Evelyn G.; Carson, Robert P.; Svystilnyk, Victoria; Venegas, Viviana; Luke, Rebecca R.; Jiang, Huiyuan; Stetsenko, Tetiana; Dueñas-Roque, Milagros M.; Trasmonte, Joseph; Burke, Rebecca J.; Hurst, Anna C. E.; Smith, Douglas M.; Massingham, Lauren J.; Pisani, Laura; Costin, Carrie E.; Ostrander, Betsy; Filloux, Francis M.; Ananth, Amitha L.; Mohamed, Ismail S.; Nechai, Alla; Dao, Jasmin M.; Fahey, Michael C.; Aliu, Ermal; Falchek, Stephen; Press, Craig A.; Treat, Lauren; Eschbach, Krista; Starks, Angela; Kammeyer, Ryan; Bear, Joshua J.; Jacobson, Mona; Chernuha, Veronika; Meibos, Bailey; Wong, Kristen; Sweney, Matthew T.; Espinoza, A. Chris; Van Orman, Colin B.; Weinstock, Arie; Kumar, Ashutosh; Soler-Alfonso, Claudia; Nolan, Danielle A.; Raza, Muhammad; Rojas Carrion, Miguel David; Chari, Geetha; Marsh, Eric D.; Shiloh-Malawsky, Yael; Parikh, Sumit; Gonzalez-Giraldo, Ernesto; Fulton, Stephen; Sogawa, Yoshimi; Burns, Kaitlyn; Malets, Myroslava; Montiel Blanco, Johnny David; Habela, Christa W.; Wilson, Carey A; Guzmán, Guillermo G.; Pavliuk, Mariia
JAMA Neurol
Academic Journal
Molecular Genetics and Metabolism. 132:S106
Genetic testing stewardship program: a novel service delivery model in a pediatric healthcare system
Academic Journal
Louise Amlie-Wolf; Laura Baker; Olivia Hiddemen; Morgan Thomas; Sue Moyer Harasink; Pamela Arn; Karen W. Gripp
Molecular Genetics and Metabolism. 132:S68
Academic Journal
Gefen, Ashley M.; Sethna, Christine B.; Cil, Onur; Perwad, Farzana; Schoettler, Megan; Michael, Mini; Angelo, Joseph R.; Safdar, Adnan; Amlie-Wolf, Louise; Hunley, Tracy E.; Ellison, Jonathan S.; Feig, Daniel; Zaritsky, Joshua
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