학술논문
'학술논문'
에서 검색결과 33건 | 목록
1~10
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101832- (2024)
Academic Journal
Zeynep Coban-Akdemir; Xiaofei Song; Francisco C. Ceballos; Davut Pehlivan; Ender Karaca; Yavuz Bayram; Tadahiro Mitani; Tomasz Gambin; Tugce Bozkurt-Yozgatli; Shalini N. Jhangiani; Donna M. Muzny; Richard A. Lewis; Pengfei Liu; Eric Boerwinkle; Ada Hamosh; Richard A. Gibbs; V. Reid Sutton; Nara Sobreira; Claudia M.B. Carvalho; Chad A. Shaw; Jennifer E. Posey; David Valle; James R. Lupski
Genetics in Medicine Open, Vol 2, Iss , Pp 101830- (2024)
Academic Journal
Samar Rahhal; Cristan Farmer; Audrey Thurm; Christopher A. Wassif; Niamh X. Cawley; John Perreault; An Dang Do; Simona Bianconi; Fady Hannah-Shmouni; Whitney Guthrie; Laura S. Cubit; Judith S. Miller; V. Reid Sutton; Dwight Koeberl; Forbes D. Porter
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101013- (2023)
Academic Journal
Samar Rahhal; Cristan Farmer; Audrey Thurm; Christopher A. Wassif; Niamh X. Cawley; John Perreault; An Dang Do; Simona Bianconi; Fady Hannah-Shmouni; Whitney Guthrie; Laura S. Cubit; Judith S. Miller; V. Reid Sutton; Dwight Koeberl; Forbes D. Porter
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101001- (2023)
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
Bonnie McCann-Crosby; Mark C. Liang; Mitchell E. Geffner; Christina M. Koppin; Nicole R. Fraga; V. Reid Sutton; Lefkothea P. Karaviti; Gagandeep Bhullar; Mimi S. Kim
International Journal of Neonatal Screening, Vol 9, Iss 3, p 50 (2023)
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
Case Reports in Obstetrics and Gynecology, Vol 2022 (2022)
Academic Journal
Chaofan Zhang; Angad Jolly; Brian J. Shayota; Juliana F. Mazzeu; Haowei Du; Moez Dawood; Patricia Celestino Soper; Ariadne Ramalho de Lima; Bárbara Merfort Ferreira; Zeynep Coban-Akdemir; Janson White; Deborah Shears; Fraser Robert Thomson; Sarah Louise Douglas; Andrew Wainwright; Kathryn Bailey; Paul Wordsworth; Mike Oldridge; Tracy Lester; Alistair D. Calder; Katja Dumic; Siddharth Banka; Dian Donnai; Shalini N. Jhangiani; Lorraine Potocki; Wendy K. Chung; Sara Mora; Hope Northrup; Myla Ashfaq; Jill A. Rosenfeld; Kati Mason; Lynda C. Pollack; Allyn McConkie-Rosell; Wei Kelly; Marie McDonald; Natalie S. Hauser; Peter Leahy; Cynthia M. Powell; Raquel Boy; Rachel Sayuri Honjo; Fernando Kok; Lucia R. Martelli; Vicente Odone Filho; Genomics England Research Consortium; Donna M. Muzny; Richard A. Gibbs; Jennifer E. Posey; Pengfei Liu; James R. Lupski; V. Reid Sutton; Claudia M.B. Carvalho
HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)
Academic Journal
Claudia M. B. Carvalho; Zeynep Coban-Akdemir; Hadia Hijazi; Bo Yuan; Matthew Pendleton; Eoghan Harrington; John Beaulaurier; Sissel Juul; Daniel J. Turner; Rupa S. Kanchi; Shalini N. Jhangiani; Donna M. Muzny; Richard A. Gibbs; Baylor-Hopkins Center for Mendelian Genomics; Pawel Stankiewicz; John W. Belmont; Chad A. Shaw; Sau Wai Cheung; Neil A. Hanchard; V. Reid Sutton; Patricia I. Bader; James R. Lupski
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
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[AR] V. Reid Sutton
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