학술논문
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'학술논문'
에서 검색결과 263건 | 목록
1~20
Academic Journal
Rachel K. Friedman; Adam S. Heath; Jennifer E. Huffman; James T. Baker; Natalie R. Hasbani; Sarah A. Gagliano Taliun; Ming–Huei Chen; Tom E. Howard; Joshua P. Lewis; Nathan Pankratz; Snehal Patil; Alex P. Reiner; Florian Thibord; Lisa R. Yanek; Jie Yao; Hung–Hsin Chen; Joanne E. Curran; Nauder Faraday; Xiuqing Guo; Marsha M. Wheeler; Kathleen A. Ryan; Xiang Zhou; Kelly Cho; Laura Almasy; Paul L. Auer; Lewis C. Becker; Peter W.F. Wilson; Eric Boerwinkle; Jeffrey R. O’Connell; Stephen S. Rich; David C. Samuels; John Blangero; Myriam Fornage; Charles Kooperberg; Rasika A. Mathias; Braxton D. Mitchell; Jerome I. Rotter; Andrew D. Johnson; Nicholas L. Smith; Zeynep H. Coban–Akdemir; Jennifer E. Below; Alanna C. Morrison; Jill M. Johnsen; Paul S. de Vries
Journal of Thrombosis and Haemostasis. 23:2410-2421
Academic Journal
Kolakada, Divya; Fu, Rui; Biziaev, Nikita; Shuvalov, Alexey; Lore, Mlana; Campbell, Amy E.; Cortázar, Michael A.; Sajek, Marcin P.; Hesselberth, Jay R.; Mukherjee, Neelanjan; Alkalaeva, Elena; Coban-Akdemir, Zeynep H.; Jagannathan, Sujatha
Cell Genomics. 5(7)
Academic Journal
Felix Boschann; Ozgur Cogulu; Davut Pehlivan; Saranya Balachandran; Pedro Vallecillo-Garcia; Christopher M. Grochowski; Nils R. Hansmeier; Zeynep H. Coban Akdemir; Cesar A. Prada-Medina; Ayca Aykut; Björn Fischer-Zirnsak; Simon Badura; Burak Durmaz; Ferda Ozkinay; René Hägerling; Jennifer E. Posey; Sigmar Stricker; Gabriele Gillessen-Kaesbach; Malte Spielmann; Denise Horn; Knut Brockmann; James R. Lupski; Uwe Kornak; Julia Schmidt
GENETICS IN MEDICINE
Academic Journal
Xingxin Pan; Jun Yun; Zeynep H. Coban Akdemir; Xiaoqian Jiang; Erxi Wu; Jason H. Huang; Nidhi Sahni; S. Stephen Yi
Computational and Structural Biotechnology Journal, Vol 21, Iss, Pp 1533-1542 (2023)
Academic Journal
Jolly, Angad ; Du, Haowei ; Borel, Christelle ; Chen, Na ; Zhao, Sen ; Grochowski, Christopher M. ; Duan, Ruizhi ; Fatih, Jawid M. ; Dawood, Moez ; Salvi, Sejal ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Koch, André ; Rouskas, Konstantinos ; Glentis, Stavros ; Deligeoroglou, Efthymios ; Bacopoulou, Flora ; Wise, Carol A. ; Dietrich, Jennifer E. ; Van den Veyver, Ignatia B. ; Dimas, Antigone S. ; Brucker, Sara ; Sutton, V. Reid ; Gibbs, Richard A. ; Antonarakis, Stylianos E. ; Wu, Nan ; Coban-Akdemir, Zeynep H. ; Zhu, Lan ; Posey, Jennifer E. ; Lupski, James R.
In Human Genetics and Genomics Advances 13 July 2023 4(3)
Academic Journal
Ian Copeland; Edmond Wonkam-Tingang; Monesha Gupta-Malhotra; S. Shahrukh Hashmi; Yixing Han; Aarti Jajoo; Nancy J. Hall; Paula P. Hernandez; Natasha Lie; Dan Liu; Jun Xu; Jill Rosenfeld; Aparna Haldipur; Zelene Desire; Zeynep H. Coban-Akdemir; Daryl A. Scott; Qing Li; Hsiao-Tuan Chao; Ana M. Zaske; James R. Lupski; Dianna M. Milewicz; Sanjay Shete; Jennifer E. Posey; Neil A. Hanchard
JCI Insight
Academic Journal
Asbjørg Stray-Pedersen; Hanne Sørmo Sorte; Pubudu Samarakoon; Tomasz Gambin; Ivan K. Chinn; Zeynep H. Coban Akdemir; Hans Christian Erichsen; Lisa R. Forbes; Shen Gu; Bo Yuan; Shalini N. Jhangiani; Donna M. Muzny; Olaug Kristin Rødningen; Ying Sheng; Sarah K. Nicholas; Lenora M. Noroski; Filiz O. Seeborg; Carla M. Davis; Debra L. Canter; Emily M. Mace; Timothy J. Vece; Carl E. Allen; Harshal A. Abhyankar; Philip M. Boone; Christine R. Beck; Wojciech Wiszniewski; Børre Fevang; Pål Aukrust; Geir E. Tjønnfjord; Tobias Gedde-Dahl; Henrik Hjorth-Hansen; Ingunn Dybedal; Ingvild Nordøy; Silje F. Jørgensen; Tore G. Abrahamsen; Torstein Øverland; Anne Grete Bechensteen; Vegard Skogen; Liv T.N. Osnes; Mari Ann Kulseth; Trine E. Prescott; Cecilie F. Rustad; Ketil R. Heimdal; John W. Belmont; Nicholas L. Rider; Javier Chinen; Tram N. Cao; Eric A. Smith; Maria Soledad Caldirola; Liliana Bezrodnik; Saul Oswaldo Lugo Reyes; Francisco J. Espinosa Rosales; Nina Denisse Guerrero-Cursaru; Luis Alberto Pedroza; Cecilia M. Poli; Jose L. Franco; Claudia M. Trujillo Vargas; Juan Carlos Aldave Becerra; Nicola Wright; Thomas B. Issekutz; Andrew C. Issekutz; Jordan Abbott; Jason W. Caldwell; Diana K. Bayer; Alice Y. Chan; Alessandro Aiuti; Caterina Cancrini; Eva Holmberg; Christina West; Magnus Burstedt; Ender Karaca; Gözde Yesil; Hasibe Artac; Yavuz Bayram; Mehmed Musa Atik; Mohammad K. Eldomery; Mohammad S. Ehlayel; Stephen Jolles; Berit Flatø; Alison A. Bertuch; I. Celine Hanson; Victor W. Zhang; Lee-Jun Wong; Jianhong Hu; Magdalena Walkiewicz; Yaping Yang; Christine M. Eng; Eric Boerwinkle; Richard A. Gibbs; William T. Shearer; Robert Lyle; Jordan S. Orange; James R. Lupski
Journal of Allergy and Clinical Immunology, vol 139, iss 1
Academic Journal
Samantha M. Baxter; Jennifer E. Posey; Nicole J. Lake; Nara Sobreira; Jessica X. Chong; Steven Buyske; Elizabeth E. Blue; Lisa H. Chadwick; Zeynep H. Coban-Akdemir; Kimberly F. Doheny; Colleen P. Davis; Monkol Lek; Christopher Wellington; Shalini N. Jhangiani; Mark Gerstein; Richard A. Gibbs; Richard P. Lifton; Daniel G. MacArthur; Tara C. Matise; James R. Lupski; David Valle; Michael J. Bamshad; Ada Hamosh; Shrikant Mane; Deborah A. Nickerson; Marcia Adams; François Aguet; Gulsen Akay; Peter Anderson; Corina Antonescu; Harindra M. Arachchi; Mehmed M. Atik; Christina A. Austin-Tse; Larry Babb; Tamara J. Bacus; Vahid Bahrambeigi; Suganthi Balasubramanian; Yavuz Bayram; Arthur L. Beaudet; Christine R. Beck; John W. Belmont; Jennifer E. Below; Kaya Bilguvar; Corinne D. Boehm; Eric Boerwinkle; Philip M. Boone; Sara J. Bowne; Harrison Brand; Kati J. Buckingham; Alicia B. Byrne; Daniel Calame; Ian M. Campbell; Xiaolong Cao; Claudia Carvalho; Varuna Chander; Jaime Chang; Katherine R. Chao; Ivan K. Chinn; Declan Clarke; Ryan L. Collins; Beryl Cummings; Zain Dardas; Moez Dawood; Kayla Delano; Stephanie P. DiTroia; Harshavardhan Doddapaneni; Haowei Du; Renqian Du; Ruizhi Duan; Mohammad Eldomery; Christine M. Eng; Eleina England; Emily Evangelista; Selin Everett; Jawid Fatih; Adam Felsenfeld; Laurent C. Francioli; Christian D. Frazar; Jack Fu; Emmanuel Gamarra; Tomasz Gambin; Weiniu Gan; Mira Gandhi; Vijay S. Ganesh; Kiran V. Garimella; Laura D. Gauthier; Danielle Giroux; Claudia Gonzaga-Jauregui; Julia K. Goodrich; William W. Gordon; Sean Griffith; Christopher M. Grochowski; Shen Gu; Sanna Gudmundsson; Stacey J. Hall; Adam Hansen; Tamar Harel; Arif O. Harmanci; Isabella Herman; Kurt Hetrick; Hadia Hijazi; Martha Horike-Pyne; Elvin Hsu; Jianhong Hu; Yongqing Huang; Jameson R. Hurless; Steve Jahl; Gail P. Jarvik; Yunyun Jiang; Eric Johanson; Angad Jolly; Ender Karaca; Michael Khayat; James Knight; J. Thomas Kolar; Sushant Kumar; Seema Lalani; Kristen M. Laricchia; Kathryn E. Larkin; Suzanne M. Leal; Gabrielle Lemire; Richard A. Lewis; He Li; Hua Ling; Rachel B. Lipson; Pengfei Liu; Alysia Kern Lovgren; Francesc López-Giráldez; Melissa P. MacMillan; Brian E. Mangilog; Stacy Mano; Dana Marafi; Beth Marosy; Jamie L. Marshall; Renan Martin; Colby T. Marvin; Michelle Mawhinney; Sean McGee; Daniel J. McGoldrick; Michelle Mehaffey; Betselote Mekonnen; Xiaolu Meng; Tadahiro Mitani; Christina Y. Miyake; David Mohr; Shaine Morris; Thomas E. Mullen; David R. Murdock; Mullai Murugan; Donna M. Muzny; Ben Myers; Juanita Neira; Kevin K. Nguyen; Patrick M. Nielsen; Natalie Nudelman; Emily O’Heir; Melanie C. O’Leary; Chrissie Ongaco; Jordan Orange; Ikeoluwa A. Osei-Owusu; Ingrid S. Paine; Lynn S. Pais; Justin Paschall; Karynne Patterson; Davut Pehlivan; Benjamin Pelle; Samantha Penney; Jorge Perez de Acha Chavez; Emma Pierce-Hoffman; Cecilia M. Poli; Jaya Punetha; Aparna Radhakrishnan; Matthew A. Richardson; Eliete Rodrigues; Gwendolin T. Roote; Jill A. Rosenfeld; Erica L. Ryke; Aniko Sabo; Alice Sanchez; Isabelle Schrauwen; Daryl A. Scott; Fritz Sedlazeck; Jillian Serrano; Chad A. Shaw; Tameka Shelford; Kathryn M. Shively; Moriel Singer-Berk; Joshua D. Smith; Hana Snow; Grace Snyder; Matthew Solomonson; Rachel G. Son; Xiaofei Song; Pawel Stankiewicz; Taylorlyn Stephan; V. Reid Sutton; Abigail Sveden; Diana Cornejo Sánchez; Monica Tackett; Michael Talkowski; Machiko S. Threlkeld; Grace Tiao; Miriam S. Udler; Laura Vail; Zaheer Valivullah; Elise Valkanas; Grace E. VanNoy; Qingbo S. Wang; Gao Wang; Lu Wang; Michael F. Wangler; Nicholas A. Watts; Ben Weisburd; Jeffrey M. Weiss; Marsha M. Wheeler; Janson J. White; Clara E. Williamson; Michael W. Wilson; Wojciech Wiszniewski; Marjorie A. Withers; Dane Witmer; Lauren Witzgall; Elizabeth Wohler; Monica H. Wojcik; Isaac Wong; Jordan C. Wood; Nan Wu; Jinchuan Xing; Yaping Yang; Qian Yi; Bo Yuan; Jordan E. Zeiger; Chaofan Zhang; Peng Zhang; Yan Zhang; Xiaohong Zhang; Yeting Zhang; Shifa Zhang; Huda Zoghbi; Igna van den Veyver; Heidi L. Rehm; Anne O’Donnell-Luria
Genetics in Medicine. 24:784-797
Academic Journal
Lisa R. Forbes; Olive S. Eckstein; Nitya Gulati; Erin C. Peckham-Gregory; Nmazuo W. Ozuah; Joseph Lubega; Nader K. El-Mallawany; Jennifer E. Agrusa; M. Cecilia Poli; Tiphanie P. Vogel; Natalia S. Chaimowitz; Nicholas L. Rider; Emily M. Mace; Jordan S. Orange; Jason W. Caldwell; Juan C. Aldave-Becerra; Stephen Jolles; Francesco Saettini; Hey J. Chong; Asbjorg Stray-Pedersen; Helen E. Heslop; Kala Y. Kamdar; R. Helen Rouce; Donna M. Muzny; Shalini N. Jhangiani; Richard A. Gibbs; Zeynep H. Coban-Akdemir; James R. Lupski; Kenneth L. McClain; Carl E. Allen; Ivan K. Chinn
Journal of Allergy and Clinical Immunology. 149:758-766
Academic Journal
Fasham, James ; Lin, Siying ; Ghosh, Promita ; Radio, Francesca Clementina ; Farrow, Emily G. ; Thiffault, Isabelle ; Kussman, Jennifer ; Zhou, Dihong ; Hemming, Rick ; Zahka, Kenneth ; Chioza, Barry A. ; Rawlins, Lettie E. ; Wenger, Olivia K. ; Gunning, Adam C. ; Pizzi, Simone ; Onesimo, Roberta ; Zampino, Giuseppe ; Barker, Emily ; Osawa, Natasha ; Rodriguez, Megan Christine ; Neuhann, Teresa M. ; Zackai, Elaine H. ; Keena, Beth ; Capasso, Jenina ; Levin, Alex V. ; Bhoj, Elizabeth ; Li, Dong ; Hakonarson, Hakon ; Wentzensen, Ingrid M. ; Jackson, Adam ; Chandler, Kate E. ; Coban-Akdemir, Zeynep H. ; Posey, Jennifer E. ; Banka, Siddharth ; Lupski, James R. ; Sheppard, Sarah E. ; Tartaglia, Marco ; Triggs-Raine, Barbara ; Crosby, Andrew H. ; Baple, Emma L.
In Genetics in Medicine March 2022 24(3):631-644
Academic Journal
Francesco Saettini; Cecilia Poli; Jaime Vengoechea; Sonia Bonanomi; Julio C. Orellana; Grazia Fazio; Fred H. Rodriguez; Loreani P. Noguera; Claire Booth; Valentina Jarur-Chamy; Marissa Shams; Maria Iascone; Maja Vukic; Serena Gasperini; Manuel Quadri; Amairelys Barroeta Seijas; Elizabeth Rivers; Mario Mauri; Raffaele Badolato; Gianni Cazzaniga; Cristina Bugarin; Giuseppe Gaipa; Wilma G. M. Kroes; Daniele Moratto; Monique M. van Oostaijen-ten Dam; Frank Baas; Silvère van der Maarel; Rocco Piazza; Zeynep H. Coban-Akdemir; James R. Lupski; Bo Yuan; Ivan K. Chinn; Lucia Daxinger; Andrea Biondi
Blood. 137:493-499
Academic Journal
Tomasz Gambin; Qian Liu; Justyna A. Karolak; Christopher M. Grochowski; Nina G. Xie; Lucia R. Wu; Yan Helen Yan; Ye Cao; Zeynep H. Coban Akdemir; Theresa A. Wilson; Shalini N. Jhangiani; Ed Chen; Christine M. Eng; Donna Muzny; Jennifer E. Posey; Yaping Yang; David Y. Zhang; Chad Shaw; Pengfei Liu; James R. Lupski; Paweł Stankiewicz
Genet Med
Academic Journal
Sarah A. Cook; William A. Comrie; M. Cecilia Poli; Morgan Similuk; Andrew J. Oler; Aiman J. Faruqi; Douglas B. Kuhns; Sheng Yang; Alexander Vargas-Hernández; Alexandre F. Carisey; Benjamin Fournier; D. Eric Anderson; Susan Price; Margery Smelkinson; Wadih Abou Chahla; Lisa R. Forbes; Emily M. Mace; Tram N. Cao; Zeynep H. Coban-Akdemir; Shalini N. Jhangiani; Donna M. Muzny; Richard A. Gibbs; James R. Lupski; Jordan S. Orange; Geoffrey D. E. Cuvelier; Moza Al Hassani; Nawal Al Kaabi; Zain Al Yafei; Soma Jyonouchi; Nikita Raje; Jason W. Caldwell; Yanping Huang; Janis K. Burkhardt; Sylvain Latour; Baoyu Chen; Gehad ElGhazali; V. Koneti Rao; Ivan K. Chinn; Michael J. Lenardo
Science. 369:202-207
Academic Journal
Michael T. Lam; Simona Coppola; Oliver H.F. Krumbach; Giusi Prencipe; Antonella Insalaco; Cristina Cifaldi; Immacolata Brigida; Erika Zara; Serena Scala; Silvia Di Cesare; Simone Martinelli; Martina Di Rocco; Antonia Pascarella; Marcello Niceta; Francesca Pantaleoni; Andrea Ciolfi; Petra Netter; Alexandre F. Carisey; Michael Diehl; Mohammad Akbarzadeh; Francesca Conti; Pietro Merli; Anna Pastore; Stefano Levi Mortera; Serena Camerini; Luciapia Farina; Marcel Buchholzer; Luca Pannone; Tram N. Cao; Zeynep H. Coban-Akdemir; Shalini N. Jhangiani; Donna M. Muzny; Richard A. Gibbs; Luca Basso-Ricci; Maria Chiriaco; Radovan Dvorsky; Lorenza Putignani; Rita Carsetti; Petra Janning; Asbjorg Stray-Pedersen; Hans Christian Erichsen; AnnaCarin Horne; Yenan T. Bryceson; Lamberto Torralba-Raga; Kim Ramme; Vittorio Rosti; Claudia Bracaglia; Virginia Messia; Paolo Palma; Andrea Finocchi; Franco Locatelli; Ivan K. Chinn; James R. Lupski; Emily M. Mace; Caterina Cancrini; Alessandro Aiuti; Mohammad R. Ahmadian; Jordan S. Orange; Fabrizio De Benedetti; Marco Tartaglia
J Exp Med
Journal of Experimental Medicine
Journal of Experimental Medicine
Academic Journal
Karolak, Justyna A. ; Vincent, Marie ; Deutsch, Gail ; Gambin, Tomasz ; Cogné, Benjamin ; Pichon, Olivier ; Vetrini, Francesco ; Mefford, Heather C. ; Dines, Jennifer N. ; Golden-Grant, Katie ; Dipple, Katrina ; Freed, Amanda S. ; Leppig, Kathleen A. ; Dishop, Megan ; Mowat, David ; Bennetts, Bruce ; Gifford, Andrew J. ; Weber, Martin A. ; Lee, Anna F. ; Boerkoel, Cornelius F. ; Bartell, Tina M. ; Ward-Melver, Catherine ; Besnard, Thomas ; Petit, Florence ; Bache, Iben ; Tümer, Zeynep ; Denis-Musquer, Marie ; Joubert, Madeleine ; Martinovic, Jelena ; Bénéteau, Claire ; Molin, Arnaud ; Carles, Dominique ; André, Gwenaelle ; Bieth, Eric ; Chassaing, Nicolas ; Devisme, Louise ; Chalabreysse, Lara ; Pasquier, Laurent ; Secq, Véronique ; Don, Massimiliano ; Orsaria, Maria ; Missirian, Chantal ; Mortreux, Jérémie ; Sanlaville, Damien ; Pons, Linda ; Küry, Sébastien ; Bézieau, Stéphane ; Liet, Jean-Michel ; Joram, Nicolas ; Bihouée, Tiphaine ; Scott, Daryl A. ; Brown, Chester W. ; Scaglia, Fernando ; Tsai, Anne Chun-Hui ; Grange, Dorothy K. ; Phillips, John A., 3rd ; Pfotenhauer, Jean P. ; Jhangiani, Shalini N. ; Gonzaga-Jauregui, Claudia G. ; Chung, Wendy K. ; Schauer, Galen M. ; Lipson, Mark H. ; Mercer, Catherine L. ; van Haeringen, Arie ; Liu, Qian ; Popek, Edwina ; Coban Akdemir, Zeynep H. ; Lupski, James R. ; Szafranski, Przemyslaw ; Isidor, Bertrand ; Le Caignec, Cedric ; Stankiewicz, Paweł
In The American Journal of Human Genetics 7 February 2019 104(2):213-228
Academic Journal
Zeynep H. Coban‐Akdemir; Wu‐Lin Charng; Mahshid Azamian; Ingrid S. Paine; Jaya Punetha; Christopher M. Grochowski; Tomasz Gambin; Santiago O. Valdes; Bryan Cannon; Gladys Zapata; Patricia P. Hernandez; Shalini Jhangiani; Harsha Doddapaneni; Jianhong Hu; Fatima Boricha; Donna M. Muzny; Eric Boerwinkle; Yaping Yang; Richard A. Gibbs; Jennifer E. Posey; Xander H. T. Wehrens; John W. Belmont; Jeffrey J. Kim; Christina Y. Miyake; James R. Lupski; Seema R. Lalani
American Journal of Medical Genetics Part A. 182:1387-1399
Academic Journal
Posey, Jennifer E. ; O’Donnell-Luria, Anne H. ; Chong, Jessica X. ; Harel, Tamar ; Jhangiani, Shalini N. ; Coban Akdemir, Zeynep H. ; Buyske, Steven ; Pehlivan, Davut ; Carvalho, Claudia M.B. ; Baxter, Samantha ; Sobreira, Nara ; Liu, Pengfei ; Wu, Nan ; Rosenfeld, Jill A. ; Kumar, Sushant ; Avramopoulos, Dimitri ; White, Janson J. ; Doheny, Kimberly F. ; Witmer, P. Dane ; Boehm, Corinne ; Sutton, V. Reid ; Muzny, Donna M. ; Boerwinkle, Eric ; Günel, Murat ; Nickerson, Deborah A. ; Mane, Shrikant ; MacArthur, Daniel G. ; Gibbs, Richard A. ; Hamosh, Ada ; Lifton, Richard P. ; Matise, Tara C. ; Rehm, Heidi L. ; Gerstein, Mark ; Bamshad, Michael J. ; Valle, David ; Lupski, James R.
In Genetics in Medicine April 2019 21(4):798-812
Academic Journal
Nicole J Van Bergen; Yiran Guo; Noraldin Al-Deri; Zhanna Lipatova; Daniela Stanga; Sarah Zhao; Rakhilya Murtazina; Valeriya Gyurkovska; Davut Pehlivan; Tadahiro Mitani; Alper Gezdirici; Jayne Antony; Felicity Collins; Mary J H Willis; Zeynep H Coban Akdemir; Pengfei Liu; Jaya Punetha; Jill V Hunter; Shalini N Jhangiani; Jawid M Fatih; Jill A Rosenfeld; Jennifer E Posey; Richard A Gibbs; Ender Karaca; Sean Massey; Thisara G Ranasinghe; Patrick Sleiman; Chris Troedson; James R Lupski; Michael Sacher; Nava Segev; Hakon Hakonarson; John Christodoulou
Brain. 143:112-130
Academic Journal
Kathie J. Ngo; Jessica E. Rexach; Hane Lee; Lauren E. Petty; Susan Perlman; Juliana M. Valera; Joshua L. Deignan; Yuanming Mao; Mamdouh Aker; Jennifer E. Posey; Shalini N. Jhangiani; Zeynep H. Coban‐Akdemir; Eric Boerwinkle; Donna Muzny; Alexandra B. Nelson; Sharon Hassin‐Baer; Gemma Poke; Katherine Neas; Michael D. Geschwind; Wayne W. Grody; Richard Gibbs; Daniel H. Geschwind; James R. Lupski; Jennifer E. Below; Stanley F. Nelson; Brent L. Fogel
Human Mutation, vol 41, iss 2
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