학술논문
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'학술논문'
에서 검색결과 45건 | 목록
1~20
Academic Journal
Zoe Wolfenson; Daniel Benavides; Connor J. Lewis; Gilbert Vezina; Lynne Wolfe; Ellen Macnamara; John Yang; John D. Heiss; Kenneth Aldape; Chris Dampier; Sadhana Jackson; Robert Stone; David Korones; William A. Gahl; Maria T. Acosta
BMC Neurology, Vol 25, Iss 1, Pp 1-5 (2025)
Academic Journal
Amanda Nagy; Francine Molay; Sarah Hargadon; Claudia Brito Pires; Natalie Grant; Lizbeth De La Rosa Abreu; Jin Yun Chen; Precilla D’Souza; Ellen Macnamara; Cynthia Tifft; Catherine Becker; Claudio Melo De Gusmao; Vikram Khurana; Ann M. Neumeyer; Florian S. Eichler
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101133- (2024)
Academic Journal
Zoe Wolfenson; Precilla D'Souza; Marla Sabaii; Inna Hughes; David Adams; Adam Hartman; Ellen Macnamara
Genetics in Medicine Open, Vol 2, Iss , Pp 101210- (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101225- (2024)
Academic Journal
Genetics in Medicine Open, Vol 2, Iss , Pp 101176- (2024)
Academic Journal
Jason R. McFadden; Christina Deanne P. Tolete; Yan Huang; Ellen Macnamara; David Sept; Galina Nesterova; William A. Gahl; Dan L. Sackett; May Christine V. Malicdan
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100990- (2023)
Academic Journal
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100281- (2023)
Academic Journal
Bernardo Blanco-Sánchez; Aurélie Clément; Sarah J Stednitz; Jennifer Kyle; Judy L Peirce; Marcie McFadden; Jeremy Wegner; Jennifer B Phillips; Ellen Macnamara; Yan Huang; David R Adams; Camilo Toro; William A Gahl; May Christine V Malicdan; Cynthia J Tifft; Erika M Zink; Kent J Bloodsworth; Kelly G Stratton; Undiagnosed Diseases Network; David M Koeller; Thomas O Metz; Philip Washbourne; Monte Westerfield
PLoS Genetics, Vol 16, Iss 10, p e1009156 (2020)
Academic Journal
Heidi Cope; Rebecca Spillmann; Jill A. Rosenfeld; Elly Brokamp; Rebecca Signer; Kelly Schoch; Emily Glanton; Jennifer A. Sullivan; Ellen Macnamara; Sharyn Lincoln; Katie Golden‐Grant; Undiagnosed Diseases Network; James P. Orengo; Gary Clark; Lindsay C. Burrage; Jennifer E. Posey; Jaya Punetha; Amy Robertson; Joy Cogan; John A. Phillips III; Julian Martinez‐Agosto; Vandana Shashi
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Academic Journal
Bernardo Blanco-Sánchez; Aurélie Clément; Sara J Stednitz; Jennifer Kyle; Judy L Peirce; Marcie McFadden; Jeremy Wegner; Jennifer B Phillips; Ellen Macnamara; Yan Huang; David R Adams; Camilo Toro; William A Gahl; May Christine V Malicdan; Cynthia J Tifft; Erika M Zink; Kent J Bloodsworth; Kelly G Stratton; Undiagnosed Diseases Network; David M Koeller; Thomas O Metz; Philip Washbourne; Monte Westerfield
PLoS Genetics, Vol 16, Iss 6, p e1008841 (2020)
Academic Journal
Daniel Brooks; Elizabeth Burke; Sukyeong Lee; Tanya N. Eble; Melanie O’Leary; Ikeoluwa Osei-Owusu; Heidi L. Rehm; Shweta U. Dhar; Lisa Emrick; David Bick; Michelle Nehrebecky; Ellen Macnamara; Dídac Casas-Alba; Judith Armstrong; Carolina Prat; Antonio F. Martínez-Monseny; Francesc Palau; Pengfei Liu; David Adams; Seema Lalani; Jill A. Rosenfeld; Lindsay C. Burrage
Human Genetics
Academic Journal
Klaas Koop; Weimin Yuan; Federico Tessadori; Wilmer R Rodriguez-Polanco; Jeremy Grubbs; Bo Zhang; Matt Osmond; Gail Graham; Sarah Sawyer; Erin Conboy; Francesco Vetrini; Kayla Treat; Rafal Płoski; Victor Murcia Pienkowski; Anna Kłosowska; Elizabeth Fieg; Joel Krier; Coralie Mallebranche; Ziegler Alban; Kimberly A Aldinger; Deborah Ritter; Ellen Macnamara; Bonnie Sullivan; John Herriges; Joseph T Alaimo; Catherine Helbig; Colin A Ellis; Clare van Eyk; Jozef Gecz; Daniel Farrugia; Ikeoluwa Osei-Owusu; Lesley Adès; Marie-Jose van den Boogaard; Sabine Fuchs; Jeroen Bakker; Karen Duran; Zachary D Dawson; Anika Lindsey; Huiyan Huang; Dustin Baldridge; Gary A Silverman; Barth D Grant; David Raizen; Maria T Acosta; Margaret Adam; David R Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A Ashley; Mahshid S Azamian; Carlos A Bacino; Guney Bademci; Ashok Balasubramanyam; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H Beggs; Edward Behrens; Gill Bejerano; Hugo Bellen; Jimmy Bennet; Beverly Berg-Rood; Jonathan A Bernstein; Gerard T Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A Burke; Lindsay C Burrage; Manish J Butte; Peter Byers; William E Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D Clark; Terra R Coakley; Laurel A Cobban; Joy D Cogan; Matthew Coggins; F Sessions Cole; Heather A Colley; Cynthia M Cooper; Heidi Cope; William J Craigen; Andrew B Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G Dayal; Matthew Deardorff; Esteban C Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L Doss; Emilie D Douine; Laura Duncan; Dawn Earl; David J Eckstein; Lisa T Emrick; Christine M Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L Fieg; Laurie C Findley; Paul G Fisher; Brent L Fogel; Irman Forghani; William A Gahl; Ian Glass; Bernadette Gochuico; Rena A Godfrey; Katie Golden-Grant; Madison P Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M Hisama; Ingrid A Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N Kobren; Isaac S Kohane; Jennefer N Kohler; Deborah Krakow; Donna M Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R Lalani; Byron Lam; Christina Lam; Grace L LaMoure; Brendan C Lanpher; Ian R Lanza; Kimberly LeBlanc; Brendan H Lee; Hane Lee; Roy Levitt; Richard A Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K Loo; Joseph Loscalzo; Richard L Maas; Ellen F Macnamara; Calum A MacRae; Valerie V Maduro; Rachel Mahoney; Bryan C Mak; May Christine V Malicdan; Laura A Mamounas; Teri A Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A Martin; Martin G Martin; Julian A Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T McCray; Elisabeth McGee; Heather Mefford; J Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M Moretti; John J Mulvihill; Mariko Nakano-Okuno; Stan F Nelson; John H Newman; Sarah K Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P Orengo; Laura Pace; Stephen C Pak; J Carl Pallais; Christina G S Palmer; Jeanette C Papp; Neil H Parker; John A Phillips III; Jennifer E Posey; Lorraine Potocki; Barbara N Pusey; Aaron Quinlan; Wendy Raskind; Archana N Raja; Deepak A Rao; Anna Raper; Genecee Renteria; Chloe M Reuter; Lynette Rives; Amy K Robertson; Lance H Rodan; Jill A Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B Sampson; Mario Saporta; C Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A Scott; Vandana Shashi; Jimann Shin; Rebecca Signer; Edwin K Silverman; Janet S Sinsheimer; Kathy Sisco; Edward C Smith; Kevin S Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C Spillmann; Joan M Stoler; Jennifer A Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A Sweetser; Virginia Sybert; Holly K Tabor; Amelia L M Tan; Queenie K-G Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J Tifft; Camilo Toro; Alyssa A Tran; Brianna M Tucker; Tiina K Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P Vogel; Colleen E Wahl; Stephanie Wallace; Nicole M Walley; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F Wangler; Patricia A Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T Wheeler; Jordan Whitlock; Lynne A Wolfe; Jeremy D Woods; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Gijs van Haaften; Holger Rehmann; Tim Schedl; Peter van Hasselt
Hum Mol Genet
Academic Journal
Debdeep Dutta; Oguz Kanca; Rishi V. Shridharan; Paul C. Marcogliese; Benjamin Steger; Marie Morimoto; F. Graeme Frost; Ellen Macnamara; Michael F. Wangler; Shinya Yamamoto; Andreas Jenny; David Adams; May C. Malicdan; Hugo J. Bellen; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Lindsay C. Burrage; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Fariha Jamal; Lefkothea Karaviti; Shamika Ketkar; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Monika Weisz Hubshman; Kim Worley; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Kosuke Izumi; Marni Falk; Kelly Hassey; Kathleen Sullivan; Anna Raper; Gonench Kilich; Zhe Zhang; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Rebecca C. Spillmann; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; H. Alan; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Lance H. Rodan; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Shilpa N. Kobren; Amelia L. M. Tan; Rachel Mahoney; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Pete Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D'Souza; David D. Draper; Carlos Ferreira; Rena A. Godfreyv; Catherine A. Groden; Ellen F. Macnamara; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Camilo Toro; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; William A. Gahl; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michae Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. RonScott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Beth A. Martin; Shruti Marwaha; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell'Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. Phillips; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel
Proc Natl Acad Sci U S A
Academic Journal
Sarah Debs; Carlos R. Ferreira; Catherine Groden; H. Jeffrey Kim; Kelly A. King; Monique C. King; Tanya Lehky; Edward W. Cowen; Laura H. Brown; Melissa Merideth; Carter M. Owen; Ellen Macnamara; Camilo Toro; William A. Gahl; Ariane Soldatos
American Journal of Medical Genetics Part A. 185:2102-2107
Academic Journal
Sarah E Sheppard; Laura Bryant; Rochelle N Wickramasekara; Courtney Vaccaro; Brynn Robertson; Jodi Hallgren; Jason Hulen; Cynthia J Watson; Victor Faundes; Yannis Duffourd; Pearl Lee; M Celeste Simon; Xavier de la Cruz; Natália Padilla; Marco Flores-Mendez; Naiara Akizu; Jacqueline Smiler; Renata Pellegrino Da Silva; Dong Li; Michael March; Abdias Diaz-Rosado; Isabella Peixoto de Barcelos; Zhao Xiang Choa; Chin Yan Lim; Christèle Dubourg; Hubert Journel; Florence Demurger; Maureen Mulhern; Cigdem Akman; Natalie Lippa; Marisa Andrews; Dustin Baldridge; John Constantino; Arie van Haeringen; Irina Snoeck-Streef; Penny Chow; Anne Hing; John M Graham Jr; Margaret Au; Laurence Faivre; Wei Shen; Rong Mao; Janice Palumbos; David Viskochil; William Gahl; Cynthia Tifft; Ellen Macnamara; Natalie Hauser; Rebecca Miller; Jessica Maffeo; Alexandra Afenjar; Diane Doummar; Boris Keren; Pamela Arn Sarah Macklin-Mantia; Ilse Meerschaut; Bert Callewaert; André Reis; Christiane Zweier; Carole Brewer; Anand Saggar; Marie F Smeland; Ajith Kumar; Frances Elmslie; Charu Deshpande; Mathilde Nizon; Benjamin Cogne; Yvette van Ierland; Martina Wilke; Marjon van Slegtenhorst; Suzanne Koudijs; Jin Yun Chen; David Dredge; Danielle Pier; Saskia Wortmann; Erik-Jan Kamsteeg; Johannes Koch; Devon Haynes; Lynda Pollack; Hannah Titheradge; Kara Ranguin; Anne-Sophie Denommé-Pichon; Sacha Weber; Rubén Pérez de la Fuente; Jaime Sánchez Del Pozo; Jose Miguel Lezana Rosales; Pascal Joset; Katharina Steindl; Anita Rauch; Davide Mei; Francesco Mari; Renzo Guerrini; James Lespinasse; Frédéric Tran Mau-Them; Christophe Philippe; Benjamin Dauriat; Laure Raymond; Sébastien Moutton; Anna M Cueto-González; Tiong Yang Tan; Cyril Mignot; Sarah Grotto; Florence Renaldo; Theodore G Drivas; Laura Hennessy; Anna Raper; Ilaria Parenti; Frank J Kaiser; Alma Kuechler; Øyvind L Busk; Lily Islam; Jacob A Siedlik; Lindsay B Henderson; Jane Juusola; Richard Person; Rhonda E Schnur; Antonio Vitobello; Siddharth Banka; Elizabeth J Bhoj; Holly A F Stessman
Academic Journal
Valerie Gartner; Thomas C. Markello; Ellen Macnamara; Andrea De Biase; Audrey Thurm; Lisa Joseph; Alan H. Beggs; Jeremy D. Schmahmann; Gerard T. Berry; Irina Anselm; Emma Boslet; Cynthia J. Tifft; William A. Gahl; Paul R. Lee
American Journal of Medical Genetics Part A. 176:2768-2776
Academic Journal
Chen G. Han; Kevin J. O'Brien; Lea M. Coon; Julie A. Majerus; Laryssa A. Huryn; Sara G. Haroutunian; Nagabhishek Moka; Wendy J. Introne; Ellen Macnamara; William A. Gahl; May Christine V. Malicdan; Dong Chen; Koyamangalath Krishnan; Bernadette R. Gochuico
American Journal of Medical Genetics Part A. 176:2819-2823
Academic Journal
Francesco Saettini; Fabiola Guerra; Mario Mauri; Grazia Fazio; Cristina Bugarin; Manuel Quadri; Stefano Rebellato; Clizia Chinello; Lisa Pagani; Federica Malighetti; Luis González Gutiérrez-Solana; Vanna Denti; Fatemeh Emam Mousavi; Miquell Raspall-Chaure; Martin-Nalda Andrea; Estibaliz Barredo; David Adams; O'Leary Melanie; Precilla D'Souza; Ellen Macnamara; Sergio Rosenzweig; Hye Sun Kuehn; Jennifer Stoddard; Heather C Mefford; Giorgia Mandrile; Lisa Pavinato; Alfredo Brusco; Patricia Valentina Velez Santamaria; Aurora Pujol; Vincent Michaud; Agathe Roubertie; Zoe Nelson; Margaret P Adam; Bernice Lo; Holm Uhlig; Claire G Salter; Emma Baple; Andrew H Crosby; Sanil Bhatia; Fulvio Magni; Giuseppe Paglia; Giovanni Cazzaniga; Rocco Piazza; Andrea Biondi; Matteo Barberis
Blood. 142:153-153
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