학술논문
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'학술논문'
에서 검색결과 7건 | 목록
1~20
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Academic Journal
Kerith-Rae Dias; Colleen M. Carlston; Laura E.R. Blok; Lachlan De Hayr; Urwah Nawaz; Carey-Anne Evans; Pinar Bayrak-Toydemir; Stephanie Htun; Ying Zhu; Alan Ma; Sally Ann Lynch; Catherine Moorwood; Karen Stals; Sian Ellard; Matthew N. Bainbridge; Jennifer Friedman; John G. Pappas; Rachel Rabin; Catherine B. Nowak; Jessica Douglas; Theodore E. Wilson; Maria J. Guillen Sacoto; Sureni V. Mullegama; Timothy Blake Palculict; Edwin P. Kirk; Jason R. Pinner; Matthew Edwards; Francesca Montanari; Claudio Graziano; Tommaso Pippucci; Bri Dingmann; Ian Glass; Heather C. Mefford; Takeyoshi Shimoji; Toshimitsu Suzuki; Kazuhiro Yamakawa; Haley Streff; Christian P. Schaaf; Anne M. Slavotinek; Irina Voineagu; John C. Carey; Michael F. Buckley; Annette Schenck; Robert J. Harvey; Tony Roscioli
Genetics in Medicine, 24, 9, pp. 1952-1966
Academic Journal
Sacha Ferdinandusse; Kirsty McWalter; Heleen te Brinke; Lodewijk IJlst; Petra M. Mooijer; Jos P.N. Ruiter; Alida E.M. van Lint; Mia Pras-Raves; Eric Wever; Francisca Millan; Maria J. Guillen Sacoto; Amber Begtrup; Mark Tarnopolsky; Lauren Brady; Roger L. Ladda; Susan L. Sell; Catherine B. Nowak; Jessica Douglas; Cuixia Tian; Elizabeth Ulm; Seth Perlman; Arlene V. Drack; Karen Chong; Nicole Martin; Jennifer Brault; Elly Brokamp; Camilo Toro; William A. Gahl; Ellen F. Macnamara; Lynne Wolfe; 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; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; 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; Alan H. Beggs; 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; Emily G. Kelley; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Anna Nagy; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter 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. Godfrey; Catherine A. Groden; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; 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; Michael 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. Ron Scott; 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; Laure Fresard; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Marta M. Majcherska; Beth A. Martin; Shruti Marwaha; Colleen E. McCormack; 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; 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; Quinten Waisfisz; Petra J.G. Zwijnenburg; Alban Ziegler; Magalie Barth; Rosemarie Smith; Sara Ellingwood; Deborah Gaebler-Spira; Somayeh Bakhtiari; Michael C. Kruer; Antoine H.C. van Kampen; Ronald J.A. Wanders; Hans R. Waterham; David Cassiman; Frédéric M. Vaz
Genet Med
Ferdinandusse, S, McWalter, K, te Brinke, H, IJlst, L, Mooijer, P M, Ruiter, J P N, van Lint, A E M, Pras-Raves, M, Wever, E, Millan, F, Guillen Sacoto, M J, Begtrup, A, Tarnopolsky, M, Brady, L, Ladda, R L, Sell, S L, Nowak, C B, Douglas, J, Tian, C, Ulm, E, Perlman, S, Drack, A V, Chong, K, Martin, N, Brault, J, Brokamp, E, Toro, C, Gahl, W A, Macnamara, E F, Wolfe, L A, Alejandro, M E, Azamian, M S, Bacino, C A, Balasubramanyam, A, Burrage, L C, Chao, H T, Clark, G D, Craigen, W J, Dai, H, Dhar, S U, Emrick, L T, Goldman, A M, Hanchard, N A, Jamal, F, Karaviti, L, Lalani, S R, Lee, B H, Lewis, R A, Marom, R, Moretti, P, Murdock, D R, Nicholas, S K, Orengo, J P, Posey, J E, Potocki, L, Rosenfeld, J A, Samson, S L, Scott, D A, Tran, A A, Vogel, T P, Wangler, M F, Yamamoto, S, Eng, C M, Liu, P, Ward, P A, Behrens, E, Deardorff, M, Falk, M, Hassey, K, Sullivan, K, Vanderver, A, Goldstein, D B, Cope, H, McConkie-Rosell, A, Schoch, K, Shashi, V, Smith, E C, Spillmann, R C, Sullivan, J A, Tan, Q K G, Walley, N M, Agrawal, P B, Beggs, A H, Berry, G T, Briere, L C, Cobban, L A, Coggins, M, Cooper, C M, Fieg, E L, High, F, Holm, I A, Korrick, S, Krier, J B, Lincoln, S A, Loscalzo, J, Maas, R L, MacRae, C A, Pallais, J C, Rao, D A, Rodan, L H, Silverman, E K, Stoler, J M, Sweetser, D A, Walker, M, Walsh, C A, Esteves, C, Kelley, E G, Kohane, I S, LeBlanc, K, McCray, A T, Nagy, A, Dasari, S, Lanpher, B C, Lanza, I R, Morava, E, Oglesbee, D, Bademci, G, Barbouth, D, Bivona, S, Carrasquillo, O, Chang, T C P, Forghani, I, Grajewski, A, Isasi, R, Lam, B, Levitt, R, Liu, X Z, McCauley, J, Sacco, R, Saporta, M, Schaechter, J, Tekin, M, Telischi, F, Thorson, W, Zuchner, S, Colley, H A, Dayal, J G, Eckstein, D J, Findley, L C, Krasnewich, D M, Mamounas, L A, Manolio, T A, Mulvihill, J J, LaMoure, G L, Goldrich, M P, Urv, T K, Doss, A L, Acosta, M T, Bonnenmann, C, D’Souza, P, Draper, D D, Ferreira, C, Godfrey, R A, Groden, C A, Macnamara, E F, Maduro, V V, Markello, T C, Nath, A, Novacic, D, Pusey, B N, Toro, C, Wahl, C E, Baker, E, Burke, E A, Adams, D R, Gahl, W A, Malicdan, M C V, Tifft, C J, Wolfe, L A, Yang, J, Power, B, Gochuico, B, Huryn, L, Latham, L, Davis, J, Mosbrook-Davis, D, Rossignol, F, Solomon, B, MacDowall, J, Thurm, A, Zein, W, Yousef, M, Adam, M, Amendola, L, Bamshad, M, Beck, A, Bennett, J, Berg-Rood, B, Blue, E, Boyd, B, Byers, P, Chanprasert, S, Cunningham, M, Dipple, K, Doherty, D, Earl, D, Glass, I, Golden-Grant, K, Hahn, S, Hing, A, Hisama, F M, Horike-Pyne, M, Jarvik, G P, Jarvik, J, Jayadev, S, Lam, C, Maravilla, K, Mefford, H, Merritt, J L, Mirzaa, G, Nickerson, D, Raskind, W, Rosenwasser, N, Scott, C R, Sun, A, Sybert, V, Wallace, S, Wener, M, Wenger, T, Ashley, E A, Bejerano, G, Bernstein, J A, Bonner, D, Coakley, T R, Fernandez, L, Fisher, P G, Fresard, L, Hom, J, Huang, Y, Kohler, J N, Kravets, E, Majcherska, M M, Martin, B A, Marwaha, S, McCormack, C E, Raja, A N, Reuter, C M, Ruzhnikov, M, Sampson, J B, Smith, K S, Sutton, S, Tabor, H K, Tucker, B M, Wheeler, M T, Zastrow, D B, Zhao, C, Byrd, W E, Crouse, A B, Might, M, Nakano-Okuno, M, Whitlock, J, Brown, G, Butte, M J, Dell’Angelica, E C, Dorrani, N, Douine, E D, Fogel, B L, Gutierrez, I, Huang, A, Krakow, D, Lee, H, Loo, S K, Mak, B C, Martin, M G, Martínez-Agosto, J A, McGee, E, Nelson, S F, Nieves-Rodriguez, S, Palmer, C G S, Papp, J C, Parker, N H, Renteria, G, Signer, R H, Sinsheimer, J S, Wan, J, Wang, L K, Perry, K W, Woods, J D, Alvey, J, Andrews, A, Bale, J, Bohnsack, J, Botto, L, Carey, J, Pace, L, Longo, N, Marth, G, Moretti, P, Quinlan, A, Velinder, M, Viskochil, D, Bayrak-Toydemir, P, Mao, R, Westerfield, M, Bican, A, Brokamp, E, Duncan, L, Hamid, R, Kennedy, J, Kozuira, M, Newman, J H, Phillips, J A, Rives, L, Robertson, A K, Solem, E, Cogan, J D, Cole, F S, Hayes, N, Kiley, D, Sisco, K, Wambach, J, Wegner, D, Baldridge, D, Pak, S, Schedl, T, Shin, J, Solnica-Krezel, L, Waisfisz, Q, Zwijnenburg, P J G, Ziegler, A, Barth, M, Smith, R, Ellingwood, S, Gaebler-Spira, D, Bakhtiari, S, Kruer, M C, van Kampen, A H C, Wanders, R J A, Waterham, H R, Cassiman, D, Vaz, F M & Undiagnosed Diseases Network 2021, 'An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids', Genetics in Medicine, vol. 23, no. 4, pp. 740-750. https://doi.org/10.1038/s41436-020-01027-3
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 4
Ferdinandusse, S, McWalter, K, te Brinke, H, IJlst, L, Mooijer, P M, Ruiter, J P N, van Lint, A E M, Pras-Raves, M, Wever, E, Millan, F, Guillen Sacoto, M J, Begtrup, A, Tarnopolsky, M, Brady, L, Ladda, R L, Sell, S L, Nowak, C B, Douglas, J, Tian, C, Ulm, E, Perlman, S, Drack, A V, Chong, K, Martin, N, Brault, J, Brokamp, E, Toro, C, Gahl, W A, Macnamara, E F, Wolfe, L A, Alejandro, M E, Azamian, M S, Bacino, C A, Balasubramanyam, A, Burrage, L C, Chao, H T, Clark, G D, Craigen, W J, Dai, H, Dhar, S U, Emrick, L T, Goldman, A M, Hanchard, N A, Jamal, F, Karaviti, L, Lalani, S R, Lee, B H, Lewis, R A, Marom, R, Moretti, P, Murdock, D R, Nicholas, S K, Orengo, J P, Posey, J E, Potocki, L, Rosenfeld, J A, Samson, S L, Scott, D A, Tran, A A, Vogel, T P, Wangler, M F, Yamamoto, S, Eng, C M, Liu, P, Ward, P A, Behrens, E, Deardorff, M, Falk, M, Hassey, K, Sullivan, K, Vanderver, A, Goldstein, D B, Cope, H, McConkie-Rosell, A, Schoch, K, Shashi, V, Smith, E C, Spillmann, R C, Sullivan, J A, Tan, Q K G, Walley, N M, Agrawal, P B, Beggs, A H, Berry, G T, Briere, L C, Cobban, L A, Coggins, M, Cooper, C M, Fieg, E L, High, F, Holm, I A, Korrick, S, Krier, J B, Lincoln, S A, Loscalzo, J, Maas, R L, MacRae, C A, Pallais, J C, Rao, D A, Rodan, L H, Silverman, E K, Stoler, J M, Sweetser, D A, Walker, M, Walsh, C A, Esteves, C, Kelley, E G, Kohane, I S, LeBlanc, K, McCray, A T, Nagy, A, Dasari, S, Lanpher, B C, Lanza, I R, Morava, E, Oglesbee, D, Bademci, G, Barbouth, D, Bivona, S, Carrasquillo, O, Chang, T C P, Forghani, I, Grajewski, A, Isasi, R, Lam, B, Levitt, R, Liu, X Z, McCauley, J, Sacco, R, Saporta, M, Schaechter, J, Tekin, M, Telischi, F, Thorson, W, Zuchner, S, Colley, H A, Dayal, J G, Eckstein, D J, Findley, L C, Krasnewich, D M, Mamounas, L A, Manolio, T A, Mulvihill, J J, LaMoure, G L, Goldrich, M P, Urv, T K, Doss, A L, Acosta, M T, Bonnenmann, C, D’Souza, P, Draper, D D, Ferreira, C, Godfrey, R A, Groden, C A, Macnamara, E F, Maduro, V V, Markello, T C, Nath, A, Novacic, D, Pusey, B N, Toro, C, Wahl, C E, Baker, E, Burke, E A, Adams, D R, Gahl, W A, Malicdan, M C V, Tifft, C J, Wolfe, L A, Yang, J, Power, B, Gochuico, B, Huryn, L, Latham, L, Davis, J, Mosbrook-Davis, D, Rossignol, F, Solomon, B, MacDowall, J, Thurm, A, Zein, W, Yousef, M, Adam, M, Amendola, L, Bamshad, M, Beck, A, Bennett, J, Berg-Rood, B, Blue, E, Boyd, B, Byers, P, Chanprasert, S, Cunningham, M, Dipple, K, Doherty, D, Earl, D, Glass, I, Golden-Grant, K, Hahn, S, Hing, A, Hisama, F M, Horike-Pyne, M, Jarvik, G P, Jarvik, J, Jayadev, S, Lam, C, Maravilla, K, Mefford, H, Merritt, J L, Mirzaa, G, Nickerson, D, Raskind, W, Rosenwasser, N, Scott, C R, Sun, A, Sybert, V, Wallace, S, Wener, M, Wenger, T, Ashley, E A, Bejerano, G, Bernstein, J A, Bonner, D, Coakley, T R, Fernandez, L, Fisher, P G, Fresard, L, Hom, J, Huang, Y, Kohler, J N, Kravets, E, Majcherska, M M, Martin, B A, Marwaha, S, McCormack, C E, Raja, A N, Reuter, C M, Ruzhnikov, M, Sampson, J B, Smith, K S, Sutton, S, Tabor, H K, Tucker, B M, Wheeler, M T, Zastrow, D B, Zhao, C, Byrd, W E, Crouse, A B, Might, M, Nakano-Okuno, M, Whitlock, J, Brown, G, Butte, M J, Dell’Angelica, E C, Dorrani, N, Douine, E D, Fogel, B L, Gutierrez, I, Huang, A, Krakow, D, Lee, H, Loo, S K, Mak, B C, Martin, M G, Martínez-Agosto, J A, McGee, E, Nelson, S F, Nieves-Rodriguez, S, Palmer, C G S, Papp, J C, Parker, N H, Renteria, G, Signer, R H, Sinsheimer, J S, Wan, J, Wang, L K, Perry, K W, Woods, J D, Alvey, J, Andrews, A, Bale, J, Bohnsack, J, Botto, L, Carey, J, Pace, L, Longo, N, Marth, G, Moretti, P, Quinlan, A, Velinder, M, Viskochil, D, Bayrak-Toydemir, P, Mao, R, Westerfield, M, Bican, A, Brokamp, E, Duncan, L, Hamid, R, Kennedy, J, Kozuira, M, Newman, J H, Phillips, J A, Rives, L, Robertson, A K, Solem, E, Cogan, J D, Cole, F S, Hayes, N, Kiley, D, Sisco, K, Wambach, J, Wegner, D, Baldridge, D, Pak, S, Schedl, T, Shin, J, Solnica-Krezel, L, Waisfisz, Q, Zwijnenburg, P J G, Ziegler, A, Barth, M, Smith, R, Ellingwood, S, Gaebler-Spira, D, Bakhtiari, S, Kruer, M C, van Kampen, A H C, Wanders, R J A, Waterham, H R, Cassiman, D, Vaz, F M & Undiagnosed Diseases Network 2021, 'An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids', Genetics in Medicine, vol. 23, no. 4, pp. 740-750. https://doi.org/10.1038/s41436-020-01027-3
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 4
Review
Dong Li; Qin Wang; Allan Bayat; Mark Battig; Yijing Zhou; Daniëlle G. M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis Perez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlíková Pourová; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O'Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan C. Towne; Megan Li; mark tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith S. Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond J. Louie; Michael J. Lyons; Jessica Douglas; Catherine B. Nowak
Academic Journal
Sacha Ferdinandusse; Kirsty McWalter; Heleen te Brinke; Lodewijk IJlst; Petra M. Mooijer; Jos P.N. Ruiter; Alida E.M. van Lint; Mia Pras-Raves; Eric Wever; Francisca Millan; Maria J. Guillen Sacoto; Amber Begtrup; Mark Tarnopolsky; Lauren Brady; Roger L. Ladda; Susan L. Sell; Catherine B. Nowak; Jessica Douglas; Cuixia Tian; Elizabeth Ulm; Seth Perlman; Arlene V. Drack; Karen Chong; Nicole Martin; Jennifer Brault; Elly Brokamp; Camilo Toro; William A. Gahl; Ellen F. Macnamara; Lynne Wolfe; 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; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Jill A. Rosenfeld; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; 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; Alan H. Beggs; 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; Emily G. Kelley; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Anna Nagy; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter 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. Godfrey; Catherine A. Groden; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; 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; Michael 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. Ron Scott; 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; Laure Fresard; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Marta M. Majcherska; Beth A. Martin; Shruti Marwaha; Colleen E. McCormack; 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; 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; Quinten Waisfisz; Petra J.G. Zwijnenburg; Alban Ziegler; Magalie Barth; Rosemarie Smith; Sara Ellingwood; Deborah Gaebler-Spira; Somayeh Bakhtiari; Michael C. Kruer; Antoine H.C. van Kampen; Ronald J.A. Wanders; Hans R. Waterham; David Cassiman; Frédéric M. Vaz
Genet Med
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