학술논문
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'학술논문'
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Academic Journal
Angwin C; National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK.; Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.; Byers P; Department of Laboratory Medicine and Pathology, Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.; Dulfer E; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.; Ghali N; National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK.; Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.; Harris J; National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK.; Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.; Hausser I; Institute of Pathology IPH, EM-Lab, Heidelberg University Hospital, Heidelberg, Germany.; McElroy A; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.; Sobey G; National Ehlers Danlos Syndrome Service Sheffield, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; van Dijk FS; National Ehlers Danlos Syndrome Service London, London North West University Healthcare NHS Trust, London, UK.; Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana SA; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran B; Karimiani, Ehsan G; Maroofian, Reza; Schaefer, Gerald B; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Acosta, MT; Adam, M; Adams, DR; Alvarez, RL; Alvey, J; Amendola, L; Andrews, A; Ashley, EA; Bacino, CA; Bademci, G; Balasubramanyam, A; Baldridge, D; Bale, J; Bamshad, M; Barbouth, D; Bayrak-Toydemir, P; Beck, A; Beggs, AH; Behrens, E; Bejerano, G; Bellen, HJ; Bennett, J; Berg-Rood, B; Bernstein, JA; Berry, GT; Bican, A; Bivona, S; Blue, E; Bohnsack, J; Bonner, D; Botto, L; Boyd, B; Briere, LC; Brown, G; Burke, EA; Burrage, LC; Butte, MJ; Byers, P; Byrd, WE; Carey, J; Carrasquillo, O; Cassini, T; Chang, TCP; Chanprasert, S; Undiagnosed Diseases Network, .
Academic Journal
Kumble, S; Levy, AM; Punetha, J; Gao, H; Ah Mew, N; Anyane-Yeboa, K; Benke, PJ; Berger, SM; Bjerglund, L; Campos-Xavier, B; Ciliberto, M; Cohen, JS; Comi, AM; Curry, C; Damaj, L; Denommé-Pichon, AS; Emrick, L; Faivre, L; Fasano, MB; Fiévet, A; Finkel, RS; García-Miñaúr, S; Gerard, A; Gomez-Puertas, P; Guillen Sacoto, MJ; Hoffman, TL; Howard, L; Iglesias, AD; Izumi, K; Larson, A; Leiber, A; Lozano, R; Marcos-Alcalde, I; Mintz, CS; Mullegama, SV; Møller, RS; Odent, S; Oppermann, H; Ostergaard, E; Pacio-Míguez, M; Palomares-Bralo, M; Parikh, S; Paulson, AM; Platzer, K; Posey, JE; Potocki, L; Revah-Politi, A; Rio, M; Ritter, AL; Robinson, S; Rosenfeld, JA; Santos-Simarro, F; Sousa, SB; Wéber, M; Xie, Y; Chung, WK; Brown, NJ; Tümer, Z; Acosta, MT; Adam, M; Adams, DR; Agrawal, PB; Alejandro, ME; Alvey, J; Amendola, L; Andrews, A; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Bale, J; Bamshad, M; Barbouth, D; Bayrak-Toydemir, P; Beck, A; Beggs, AH; Behrens, E; Bejerano, G; Bennet, J; Berg-Rood, B; Bernstein, JA; Berry, GT; Bican, A; Bivona, S; Blue, E; Bohnsack, J; Bonnenmann, C; Bonner, D; Botto, L; Boyd, B; Briere, LC; Brokamp, E; Brown, G; Burke, EA; Burrage, LC; Butte, MJ; Byers, P
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
instname
Human mutation, vol. 43, no. 2, pp. 266-282
Kumble, S & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Tümer, Z & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Universidad Francisco de Vitoria
instname
Human mutation, vol. 43, no. 2, pp. 266-282
Kumble, S & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Tümer, Z & Undiagnosed Diseases Network 2022, ' The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder ', Human Mutation, vol. 43, no. 2, pp. 266-282 . https://doi.org/10.1002/humu.24308
Academic Journal
Annals of the Rheumatic Diseases; Jul1987, Vol. 46 Issue 7, p515-519, 5p, 5 Charts
Academic Journal
Cotton, RGH; Appelbe, W; Auerbach, AD; Becker, K; Bodmer, W; Boone, DJ; Boulyjenkov, V; Brahmachari, S; Brody, L; Brookes, A; Brown, AF; Byers, P; Pagon, R; Maria Cantu J; Cassiman, J-J; Claustres, M; Concannon, P; Den Dunnen JT; Flicek, P; Gibbs, R; Hall, J; Hasler, J; Katz, M; Kwok, P-Y; Laradi, S; Lindblom, A; Sherry, S; Maglott, D; Marsh, S; Masimirembwa, CM; Minoshima, S; De Ramirez AMO; Ramesar, R; Ravine, D; Richards, S; Rimoin, D; Ring, HZ; Scriver, CR; Shimizu, N; Stein, L; Tadmouri, GO; Taylor, G; Watson, M
Nature Genetics. 39:433-436
Academic Journal
Bascunana C; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: claire.bacunana@gmail.com.; El Helou J; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: janine.elhelou.ccomtl@ssss.gouv.qc.ca.; Rauch FT; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Clinical Biomedical Laboratory, Shriners Hospitals for Children, Montreal, Quebec, Canada. Electronic address: frank.rauch@mcgill.ca.; Bardai G; Clinical Biomedical Laboratory, Shriners Hospitals for Children, Montreal, Quebec, Canada. Electronic address: GBardai@shriners.mcgill.ca.; Glorieux FH; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Clinical Biomedical Laboratory, Shriners Hospitals for Children, Montreal, Quebec, Canada. Electronic address: glorieux@shriners.mcgill.ca.; Riviere JB; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address: jean-baptiste.riviere@mcgill.ca.; Byers P; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA. Electronic address: pbyers@uw.edu.; Kaplan PB; Genetics and Metabolism, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: KAPLAN@email.chop.edu.; Rosenblatt DS; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada. Electronic address: david.rosenblatt@mcgill.ca.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Martinez J; Division of Laparoendoscopic and Bariatric Surgery, University of Miami School of Medicine, Miami, FL, USA.; Guerrero L; Byers P; Lopez P; Scagnelli T; Azuaje R; Dunkin B
Publisher: Springer Country of Publication: Germany NLM ID: 8806653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2218 (Electronic) Linking ISSN: 09302794 NLM ISO Abbreviation: Surg Endosc Subsets: MEDLINE
Academic Journal
Academic Journal
Willens, HJ; Chakko, SC; Lowery, MH; Byers, P; Labrador, E; Gallagher, A; Castrillon, JC; Myerburg, RJ
Academic Journal
Reighard, G; Andersen, R; Anderson, J; Autio, W; Beckman, T; Baker, T; Belding, R; Brown, G; Byers, P; Cowgill, W; Deyton, D; Durner, E; Erb, A; Ferree, D; Gaus, A; Godin, R; Hayden, R; Hirst, P; Kadir, S; Kaps, M; Larsen, H; Lindstrom, T; Miles, N; Morrison, F; Myers, S; Ouellette, D; Rom, C; Shane, W; Taylor, B; Taylor, K; Walsh, C; Warmund, M
Academic Journal
Nishida, S; Hadjis, NS; Levi, DM; Kato, T; Vaidya, A; Nery, JR; Madariaga, J; Nakamura, N; Ruiz, P; Neff, G; Byers, P; Tzakis, AG
Academic Journal
Asif, A; Byers, P; Vieira, CF; Merrill, D; Gadalean, F; Bourgoignie, JJ; Leclercq, B; Roth, D; Gadallah, MF
Academic Journal
Academic Journal
Academic Journal
Bateman, JF; Freddi, S; Lamande, SR; Byers, P; Nasioulas, S; Douglas, J; Otway, R; Kohonen-Corish, M; Edkins, E; Forrest, S
Academic Journal
McNeill, KM; Byers, P; Kittle, T; Hand, S; Parham, J; Mena, L; Blackmore, C; Rowan, A; Kintz, JM; George, D; Moolenaar, RL; Shults, R; Montgomery, J; Shepard, C; Wright, C; Kuehnert, M; Newman, L; Doyle, T; Mootrey, G; Burger, R; Bertulfo, J; Koops, G; Stern, E; Breiding, M; Burwell, L; Cain, K; Chang, D; Cohn, A; Finkbeiner, T; Jain, S; Jordan, H; Liang, J; Melius, E; Rao, C; Soud, F; Uhde, K; Van Sickle, D; CDC
Academic Journal
Jablecki, J; Keller, R; DeGraw, C; Ratard, R; Straif-Bourgeois, S; Holcombe, JM; Quilter, S; Byers, P; McNeill, M; Schlossberg, D; Dohony, DP; Neville, J; Carlo, J; Buhner, D; Smith, BR; Wallace, C; Jernigan, D; Sobel, J; Reynolds, M; Moore, M; Kuehnert, M; Mott, J; Jamieson, D; Burns-Grant, G; Misselbeck, T; Cruise, PE; LoBue, P; Holtz, T; Haddad, M; Clark, TA; Cohen, A; Sunenshine, R; Jhung, M; Vranken, P; Carpenter, LR
Academic Journal
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