학술논문
'학술논문'
에서 검색결과 6건 | 목록
1~10
Academic Journal
John Powell; Peter Blair; Jenny Ingram; Helen Firth; Karen Jaqueline Low; Amy Watford; Ian Nabney; Sarah L Wynn; Julia Foreman
BMJ Open, Vol 14, Iss 5 (2024)
Academic Journal
Morad Ansari; Kamli N.W. Faour; Akiko Shimamura; Graeme Grimes; Emeline M. Kao; Erica R. Denhoff; Ana Blatnik; Daniel Ben-Isvy; Lily Wang; Benjamin M. Helm; Helen Firth; Amy M. Breman; Emilia K. Bijlsma; Aiko Iwata-Otsubo; Thomy J.L. de Ravel; Vincent Fusaro; Alan Fryer; Keith Nykamp; Lara G. Stühn; Tobias B. Haack; G. Christoph Korenke; Panayiotis Constantinou; Kinga M. Bujakowska; Karen J. Low; Emily Place; Jennifer Humberson; Melanie P. Napier; Jessica Hoffman; Jane Juusola; Matthew A. Deardorff; Wanqing Shao; Shira Rockowitz; Ian Krantz; Maninder Kaur; Sarah Raible; Victoria Dortenzio; Sabine Kliesch; Moriel Singer-Berk; Emily Groopman; Stephanie DiTroia; Sonia Ballal; Siddharth Srivastava; Kathrin Rothfelder; Saskia Biskup; Jessica Rzasa; Jennifer Kerkhof; Haley McConkey; Bekim Sadikovic; Sarah Hilton; Siddharth Banka; Frank Tüttelmann; Donald F. Conrad; Anne O’Donnell-Luria; Michael E. Talkowski; David R. FitzPatrick; Philip M. Boone
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Academic Journal
Marina DiStefano; Fowzan Alkuraya; Joanna Amberger; Christina Austin-Tse; Ola Austine; Marie Balzotti; Jonathan Berg; Elspeth Bruford; Alicia Byrne; Elena Cibrian-Uhalte; Alison Coffey; Helen Firth; Ada Hamosh; Sarah Hunt; Teri Klein; Catherine Kurtz; Sarah Leigh; Ivone Leong; Caterina Lucano; Sateesh Maddirevula; Audrey O'Neill; Arina Puzriakova; Ana Rath; Angharad Roberts; Kelly Radtke; Erin Ramos; Erin Riggs; Charlotte Rodwell; Julie Taylor; Katrin Sangkuhl; Catherine Snow; Zornitza Stark; James Ware; Bess Wayburn; Phillip Weller; Heidi Rehm
Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Academic Journal
Marina DiStefano; Joanna Amberger; Christina Austin-Tse; Marie Balzotti; Mutaz Amin; Jonathan Berg; Carol Bocchini; Elspeth Bruford; Fowzan Alkuraya; Alison Coffey; Heather Collins; Fiona Cunningham; Helen Firth; David Fitzpatrick; Yaron Einhorn; Jennifer Goldstein; Ada Hamosh; Sarah Leigh; Ivone Leong; Christa Martin; Ellen McDonagh; Arina Puzriakova; Ana Rath; Angharad Roberts; Kelly Radtke; Erin Ramos; Erin Riggs; Charlotte Rodwell; Katrin Sangkuhl; Catherine Snow; Zornitza Stark; Jackie Tahiliani; James Ware; Eleanor Williams; Caroline Wright; Michael Yates; Phillip Weller; Heidi Rehm
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
Academic Journal
Andrew K. Sobering; Laura M. Bryant; Dong Li; Julie McGaughran; Isabelle Maystadt; Stephanie Moortgat; John M. Graham, Jr.; Arie van Haeringen; Claudia Ruivenkamp; Roos Cuperus; Julie Vogt; Jenny Morton; Charlotte Brasch-Andersen; Maria Steenhof; Lars Kjærsgaard Hansen; Élodie Adler; Stanislas Lyonnet; Veronique Pingault; Marlin Sandrine; Alban Ziegler; Tyhiesia Donald; Beverly Nelson; Brandon Holt; Oleksandra Petryna; Helen Firth; Kirsty McWalter; Jacob Zyskind; Aida Telegrafi; Jane Juusola; Richard Person; Michael J. Bamshad; Dawn Earl; Anne Chun-Hui Tsai; Katherine R. Yearwood; Elysa Marco; Catherine Nowak; Jessica Douglas; Hakon Hakonarson; Elizabeth J. Bhoj
HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)
Academic Journal
Andrew K. Sobering; Laura M. Bryant; Dong Li; Julie McGaughran; Isabelle Maystadt; Stephanie Moortgat; John M. Graham, Jr.; Arie van Haeringen; Claudia Ruivenkamp; Roos Cuperus; Julie Vogt; Jenny Morton; Charlotte Brasch-Andersen; Maria Steenhof; Lars Kjærsgaard Hansen; Élodie Adler; Stanislas Lyonnet; Veronique Pingault; Marlin Sandrine; Alban Ziegler; Tyhiesia Donald; Beverly Nelson; Brandon Holt; Oleksandra Petryna; Helen Firth; Kirsty McWalter; Jacob Zyskind; Aida Telegrafi; Jane Juusola; Richard Person; Michael J. Bamshad; Dawn Earl; Anne Chun-Hui Tsai; Katherine R. Yearwood; Elysa Marco; Catherine Nowak; Jessica Douglas; Hakon Hakonarson; Elizabeth J. Bhoj
HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)
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[AR] Helen Firth
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