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우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
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공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
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위반 시 제재
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'e-Article'
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1~20
Academic Journal
Davut Pehlivan; Jesse D. Bengtsson; Sameer S. Bajikar; Christopher M. Grochowski; Ming Yin Lun; Mira Gandhi; Angad Jolly; Alexander J. Trostle; Holly K. Harris; Bernhard Suter; Sukru Aras; Melissa B. Ramocki; Haowei Du; Michele G. Mehaffey; KyungHee Park; Ellen Wilkey; Cemal Karakas; Jesper J. Eisfeldt; Maria Pettersson; Lynn Liu; Marwan S. Shinawi; Virginia E. Kimonis; Wojciech Wiszniewski; Kyle Mckenzie; Timo Roser; Angela M. Vianna-Morgante; Alberto S. Cornier; Ahmed Abdelmoity; James P. Hwang; Shalini N. Jhangiani; Donna M. Muzny; Tadahiro Mitani; Kazuhiro Muramatsu; Shin Nabatame; Daniel G. Glaze; Jawid M. Fatih; Richard A. Gibbs; Zhandong Liu; Anna Lindstrand; Fritz J. Sedlazeck; James R. Lupski; Huda Y. Zoghbi; Claudia M. B. Carvalho
Genome Medicine, Vol 16, Iss 1, Pp 1-23 (2024)
Academic Journal
Zain Dardas; Jawid M. Fatih; Angad Jolly; Moez Dawood; Haowei Du; Christopher M. Grochowski; Edward G. Jones; Shalini N. Jhangiani; Xander H. T. Wehrens; Pengfei Liu; Weimin Bi; Eric Boerwinkle; Jennifer E. Posey; Donna M. Muzny; Richard A. Gibbs; James R. Lupski; Zeynep Coban-Akdemir; Shaine A. Morris
Genome Medicine, Vol 16, Iss 1, Pp 1-20 (2024)
Academic Journal
Christopher M. Grochowski; Jesse D. Bengtsson; Haowei Du; Mira Gandhi; Ming Yin Lun; Michele G. Mehaffey; KyungHee Park; Wolfram Höps; Eva Benito; Patrick Hasenfeld; Jan O. Korbel; Medhat Mahmoud; Luis F. Paulin; Shalini N. Jhangiani; James Paul Hwang; Sravya V. Bhamidipati; Donna M. Muzny; Jawid M. Fatih; Richard A. Gibbs; Matthew Pendleton; Eoghan Harrington; Sissel Juul; Anna Lindstrand; Fritz J. Sedlazeck; Davut Pehlivan; James R. Lupski; Claudia M.B. Carvalho
Cell Genomics, Vol 4, Iss 7, Pp 100590- (2024)
Academic Journal
Haowei Du; Angad Jolly; Christopher M. Grochowski; Bo Yuan; Moez Dawood; Shalini N. Jhangiani; He Li; Donna Muzny; Jawid M. Fatih; Zeynep Coban-Akdemir; Mary Esther Carlin; Angela E. Scheuerle; Karin Witzl; Jennifer E. Posey; Matthew Pendleton; Eoghan Harrington; Sissel Juul; P. J. Hastings; Weimin Bi; Richard A. Gibbs; Fritz J. Sedlazeck; James R. Lupski; Claudia M. B. Carvalho; Pengfei Liu
Genome Medicine, Vol 14, Iss 1, Pp 1-21 (2022)
Academic Journal
Angad Jolly; Haowei Du; Christelle Borel; Na Chen; Sen Zhao; Christopher M. Grochowski; Ruizhi Duan; Jawid M. Fatih; Moez Dawood; Sejal Salvi; Shalini N. Jhangiani; Donna M. Muzny; André Koch; Konstantinos Rouskas; Stavros Glentis; Efthymios Deligeoroglou; Flora Bacopoulou; Carol A. Wise; Jennifer E. Dietrich; Ignatia B. Van den Veyver; Antigone S. Dimas; Sara Brucker; V. Reid Sutton; Richard A. Gibbs; Stylianos E. Antonarakis; Nan Wu; Zeynep H. Coban-Akdemir; Lan Zhu; Jennifer E. Posey; James R. Lupski
HGG Advances, Vol 4, Iss 3, Pp 100188- (2023)
Academic Journal
Daniel G. Calame; Jawid M. Fatih; Isabella Herman; Zeynep Coban‐Akdemir; Haowei Du; Tadahiro Mitani; Shalini N. Jhangiani; Dana Marafi; Richard A. Gibbs; Jennifer E. Posey; Vidya P. Mehta; Carrie A. Mohila; Farida Abid; Timothy E. Lotze; Davut Pehlivan; Adekunle M. Adesina; James R. Lupski
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
Academic Journal
Ruizhi Duan; Hadia Hijazi; Elif Yilmaz Gulec; Hatice Koçak Eker; Silvia R. Costa; Yavuz Sahin; Zeynep Ocak; Sedat Isikay; Ozge Ozalp; Sevcan Bozdogan; Huseyin Aslan; Nursel Elcioglu; Débora R. Bertola; Alper Gezdirici; Haowei Du; Jawid M. Fatih; Christopher M. Grochowski; Gulsen Akay; Shalini N. Jhangiani; Ender Karaca; Shen Gu; Zeynep Coban-Akdemir; Jennifer E. Posey; Yavuz Bayram; V. Reid Sutton; Claudia M.B. Carvalho; Davut Pehlivan; Richard A. Gibbs; James R. Lupski
HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
Academic Journal
Dana Marafi; Tadahiro Mitani; Sedat Isikay; Jozef Hertecant; Mohammed Almannai; Kandamurugu Manickam; Rami Abou Jamra; Ayman W. El‐Hattab; Jaishen Rajah; Jawid M. Fatih; Haowei Du; Ender Karaca; Yavuz Bayram; Jaya Punetha; Jill A. Rosenfeld; Shalini N. Jhangiani; Eric Boerwinkle; Zeynep C. Akdemir; Serkan Erdin; Jill V. Hunter; Richard A. Gibbs; Davut Pehlivan; Jennifer E. Posey; James R. Lupski
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)
Academic Journal
Jaya Punetha; Ender Karaca; Alper Gezdirici; Ryan E. Lamont; Davut Pehlivan; Dana Marafi; Juan P. Appendino; Jill V. Hunter; Zeynep C. Akdemir; Jawid M. Fatih; Shalini N. Jhangiani; Richard A. Gibbs; A. Micheil Innes; Jennifer E. Posey; James R. Lupski
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1395-1406 (2019)
Academic Journal
Scott Barish; Sheng-Jia Lin; Reza Maroofian; Alper Gezdirici; Hamoud Alhebby; Aurélien Trimouille; Marta Biderman Waberski; Tadahiro Mitani; Ilka Huber; Kristian Tveten; Øystein L. Holla; Øyvind L. Busk; Henry Houlden; Ehsan Ghayoor Karimiani; Mehran Beiraghi Toosi; Reza Shervin Badv; Paria Najarzadeh Torbati; Fatemeh Eghbal; Javad Akhondian; Ayat Al Safar; Abdulrahman Alswaid; Giovanni Zifarelli; Peter Bauer; Dana Marafi; Jawid M. Fatih; Kevin Huang; Cassidy Petree; Daniel G. Calame; Charlotte von der Lippe; Fowzan S. Alkuraya; Sami Wali; James R. Lupski; Gaurav K. Varshney; Jennifer E. Posey; Davut Pehlivan
The American Journal of Human Genetics. 111:2566-2581
Academic Journal
Zain Dardas; Dana Marafi; Ruizhi Duan; Jawid M. Fatih; Omnia F. El-Rashidy; Christopher M. Grochowski; Claudia M. B. Carvalho; Shalini N. Jhangiani; Weimin Bi; Haowei Du; Richard A. Gibbs; Jennifer E. Posey; Daniel G. Calame; Maha S. Zaki; James R. Lupski
Res Sq
Eur J Hum Genet
Eur J Hum Genet
Academic Journal
Ruizhi Duan; Dana Marafi; Zhi‐Jie Xia; Bobby G. Ng; Reza Maroofian; Farhana Taher Sumya; Ahmed K. Saad; Haowei Du; Jawid M. Fatih; Jill V. Hunter; Hasnaa M. Elbendary; Shahid M. Baig; Uzma Abdullah; Zafar Ali; Stephanie Efthymiou; David Murphy; Tadahiro Mitani; Marjorie A. Withers; Shalini N. Jhangiani; Zeynep Coban‐Akdemir; Daniel G. Calame; Davut Pehlivan; Richard A. Gibbs; Jennifer E. Posey; Henry Houlden; Vladimir V. Lupashin; Maha S. Zaki; Hudson H. Freeze; James R. Lupski
Journal of Inherited Metabolic Disease. 46:1195-1205
Academic Journal
Moez Dawood; Gulsen Akay; Tadahiro Mitani; Dana Marafi; Jawid M. Fatih; Alper Gezdirici; Hossein Najmabadi; Kimia Kahrizi; Jaya Punetha; Christopher M. Grochowski; Haowei Du; Angad Jolly; He Li; Zeynep Coban‐Akdemir; Fritz J. Sedlazeck; Jill V. Hunter; Shalini N. Jhangiani; Donna Muzny; Davut Pehlivan; Jennifer E. Posey; Claudia M. B. Carvalho; Richard A. Gibbs; James R. Lupski
American Journal of Medical Genetics Part A. 191:794-804
Academic Journal
Hadia Hijazi; Linda M. Reis; Davut Pehlivan; Jonathan A. Bernstein; Michael Muriello; Erin Syverson; Devon Bonner; Mehrdad A. Estiar; Ziv Gan-Or; Guy A. Rouleau; Ekaterina Lyulcheva; Lynn Greenhalgh; Marine Tessarech; Estelle Colin; Agnès Guichet; Dominique Bonneau; R.H. van Jaarsveld; A.M.A. Lachmeijer; Lyse Ruaud; Jonathan Levy; Anne-Claude Tabet; Rafal Ploski; Małgorzata Rydzanicz; Łukasz Kępczyński; Katarzyna Połatyńska; Yidan Li; Jawid M. Fatih; Dana Marafi; Jill A. Rosenfeld; Zeynep Coban-Akdemir; Weimin Bi; Richard A. Gibbs; Grace M. Hobson; Jill V. Hunter; Claudia M.B. Carvalho; Jennifer E. Posey; Elena V. Semina; James R. Lupski
The American Journal of Human Genetics. 109:2270-2282
Academic Journal
Dana Marafi; Nina Kozar; Ruizhi Duan; Stephen Bradley; Kenji Yokochi; Fuad Al Mutairi; Nebal Waill Saadi; Sandra Whalen; Theresa Brunet; Urania Kotzaeridou; Daniela Choukair; Boris Keren; Caroline Nava; Mitsuhiro Kato; Hiroshi Arai; Tawfiq Froukh; Eissa Ali Faqeih; Ali M. AlAsmari; Mohammed M. Saleh; Filippo Pinto e Vairo; Pavel N. Pichurin; Eric W. Klee; Christopher T. Schmitz; Christopher M. Grochowski; Tadahiro Mitani; Isabella Herman; Daniel G. Calame; Jawid M. Fatih; Haowei Du; Zeynep Coban-Akdemir; Davut Pehlivan; Shalini N. Jhangiani; Richard A. Gibbs; Satoko Miyatake; Naomichi Matsumoto; Laura J. Wagstaff; Jennifer E. Posey; James R. Lupski; Dies Meijer; Matias Wagner
Marafi, D, Kozar, N, Duan, R, Bradley, S, Yokochi, K, Al Mutairi, F, Waill Saadi, N, Whalen, S, Brune, T, Kotzaeridou, U, Choukair, D, Keren, B, Nava, C, Kato, M, Arai, H, Froukh, T, Faqeih, E A, AlAsmari, A M, Saleh, M M, Vairo, F P E, Pichurin, P N, Klee, E W, Schmitz, C T, Grochowski, C M, Mitani, T, Herman, I, Calame, D, Faith, J M, Du, H, Coban-Akdemir, Z, Pehlivan, D, Jhangiani, S N, Gibbs, R A, Miyatake, S, Matsumoto, N, Wagstaff, L J, Posey, J E, Lupski, J R, Meijer, D & Wagner, M 2022, ' A reverse Genetics and Genomics Approach to Gene Paralog Function and Disease : Myokymia and The Juxtaparanode ', American Journal of Human Genetics, vol. 109 . https://doi.org/10.1016/j.ajhg.2022.07.006
Am. J. Hum. Genet. 109, 1713-1723 (2022)
Am. J. Hum. Genet. 109, 1713-1723 (2022)
Academic Journal
Daniel G. Calame; Isabella Herman; Reza Maroofian; Aren E. Marshall; Karina Carvalho Donis; Jawid M. Fatih; Tadahiro Mitani; Haowei Du; Christopher M. Grochowski; Sergio B. Sousa; Charul Gijavanekar; Somayeh Bakhtiari; Yoko A. Ito; Clarissa Rocca; Jill V. Hunter; V. Reid Sutton; Lisa T. Emrick; Kym M. Boycott; Alexander Lossos; Yakov Fellig; Eugenia Prus; Yosef Kalish; Vardiella Meiner; Manon Suerink; Claudia Ruivenkamp; Kayla Muirhead; Nebal W. Saadi; Maha S. Zaki; Arjan Bouman; Tahsin Stefan Barakat; David L. Skidmore; Matthew Osmond; Thiago Oliveira Silva; David Murphy; Ehsan Ghayoor Karimiani; Yalda Jamshidi; Asaad Ghanim Jaddoa; Homa Tajsharghi; Sheng Chih Jin; Mohammad Reza Abbaszadegan; Reza Ebrahimzadeh‐Vesal; Susan Hosseini; Shahryar Alavi; Amir Bahreini; Elahe Zarean; Mohammad Mehdi Salehi; Nouriya Abbas Al‐Sannaa; Giovanni Zifarelli; Peter Bauer; Simon C. Robson; Zeynep Coban‐Akdemir; Lorena Travaglini; Francesco Nicita; Shalini N. Jhangiani; Richard A. Gibbs; Jennifer E. Posey; Michael C. Kruer; Kristin D. Kernohan; Jonas A. Morales Saute; Henry Houlden; Adeline Vanderver; Sarah H. Elsea; Davut Pehlivan; Dana Marafi; James R. Lupski
Annals of Neurology. 92:304-321
Academic Journal
Daniel G. Calame; Jovi Huixin Wong; Puravi Panda; Dat Tuan Nguyen; Nancy C.P. Leong; Riccardo Sangermano; Sohil G. Patankar; Mohamed Abdel-Hamid; Lama AlAbdi; Sylvia Safwat; Kyle P. Flannery; Zain Dardas; Jawid M. Fatih; Chaya Murali; Varun Kannan; Timothy E. Lotze; Isabella Herman; Farah Ammouri; Brianna Rezich; Stephanie Efthymiou; Shahryar Alavi; David Murphy; Zahra Firoozfar; Mahya Ebrahimi Nasab; Amir Bahreini; Majid Ghasemi; Nourelhoda A. Haridy; Hamid Reza Goldouzi; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Varunvenkat M. Srinivasan; Vykuntaraju K. Gowda; Haowei Du; Shalini N. Jhangiani; Zeynep Coban-Akdemir; Dana Marafi; Lance Rodan; Sedat Isikay; Jill A. Rosenfeld; Subhadra Ramanathan; Michael Staton; Kerby C. Oberg; Robin D. Clark; Catharina Wenman; Sam Loughlin; Ramy Saad; Tazeen Ashraf; Alison Male; Shereen Tadros; Reza Boostani; Ghada M.H. Abdel-Salam; Maha Zaki; Ebtesam Abdalla; M. Chiara Manzini; Davut Pehlivan; Jennifer E. Posey; Richard A. Gibbs; Henry Houlden; Fowzan S. Alkuraya; Kinga Bujakowska; Reza Maroofian; James R. Lupski; Long Nam Nguyen
medRxiv
Academic Journal
Elifcan Taşdelen; Daniel G. Calame; Gulsen Akay; Tadahiro Mitani; Jawid M. Fatih; Isabella Herman; Haowei Du; Zeynep Coban‐Akdemir; Dana Marafi; Shalini N. Jhangiani; Jennifer E. Posey; Richard A. Gibbs; Taylan Altıparmak; Nüket Yürür Kutlay; James R. Lupski; Davut Pehlivan
American Journal of Medical Genetics Part A. 188:2153-2161
Academic Journal
Joshua Manor; Daniel G. Calame; Charul Gijavanekar; Alyssa Tran; Jawid M. Fatih; Seema R. Lalani; Elizabeth Mizerik; Mered Parnes; Vidya P. Mehta; Adekunle M. Adesina; James R. Lupski; Fernando Scaglia; Sarah H. Elsea
Brain. 145:e36-e40
Academic Journal
Isabella Herman; Angad Jolly; Haowei Du; Moez Dawood; Ghada M. H. Abdel‐Salam; Dana Marafi; Tadahiro Mitani; Daniel G. Calame; Zeynep Coban‐Akdemir; Jawid M. Fatih; Ibrahim Hegazy; Shalini N. Jhangiani; Richard A. Gibbs; Davut Pehlivan; Jennifer E. Posey; James R. Lupski
American Journal of Medical Genetics Part A. 188:735-750
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