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Clinical Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in People with Cystic Fibrosis: A Clinical Trial
Clinical Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in People with Cystic Fibrosis: A Clinical Trial
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Clinical Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in People with Cystic Fibrosis: A Clinical Trial

Nichols, David P ; Paynter, Alex C ; Heltshe, Sonya L ; Donaldson, Scott H ; Frederick, Carla A ; Freedman, Steven D ; Gelfond, Daniel ; Hoffman, Lucas R ; Kelly, Andrea ; Narkewicz, Michael R ; Pittman, Jessica E ; Ratjen, Felix ; Rosenfeld, Margaret ; Sagel, Scott D ; Schwarzenberg, Sarah Jane ; Singh, Pradeep K ; Solomon, George M ; Stalvey, Michael S ; Clancy, John P ; Kirby, Shannon ; Van Dalfsen, Jill M ; Kloster, Margaret H ; Rowe, Steven M

American journal of respiratory and critical care medicine, 2022-03, Vol.205 (5), p.529-539 [Periódico revisado por pares]

United States: American Thoracic Society

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2
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
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Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation

Narula, Mansi ; Lakshmanan, Uma ; Borna, Simon ; Schulze, Janika J. ; Holmes, Tyson H. ; Harre, Nicholas ; Kirkey, Matthew ; Ramachandran, Akshaya ; Tagi, Veronica Maria ; Barzaghi, Federica ; Grunebaum, Eyal ; Upton, Julia E.M. ; Hong-Diep Kim, Vy ; Wysocki, Christian ; Dimitriades, Victoria R. ; Weinberg, Kenneth ; Weinacht, Katja G. ; Gernez, Yael ; Sathi, Bindu K. ; Schelotto, Magdalena ; Johnson, Matthew ; Olek, Sven ; Sachsenmaier, Christoph ; Roncarolo, Maria-Grazia ; Bacchetta, Rosa

Journal of allergy and clinical immunology, 2023-01, Vol.151 (1), p.233-246.e10 [Periódico revisado por pares]

United States: Elsevier Inc

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3
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, Candace T. ; McMahon, Jacinta M. ; Schneider, Amy L. ; Petrovski, Slavé ; Allen, Andrew S. ; Carvill, Gemma L. ; Zemel, Matthew ; Saykally, Julia E. ; LaCroix, Amy J. ; Heinzen, Erin L. ; Hollingsworth, Georgina ; Nikanorova, Marina ; Corbett, Mark ; Gecz, Jozef ; Coman, David ; Freeman, Jeremy ; Calvert, Sophie ; Gill, Deepak ; Carney, Patrick ; Lerman-Sagie, Tally ; Sampaio, Hugo ; Cossette, Patrick ; Delanty, Norman ; Dlugos, Dennis ; Eichler, Evan E. ; Epstein, Michael P. ; Glauser, Tracy ; Johnson, Michael R. ; Kuzniecky, Ruben ; Marson, Anthony G. ; O’Brien, Terence J. ; Ottman, Ruth ; Petrou, Stephen ; Poduri, Annapurna ; Pickrell, William O. ; Chung, Seo-Kyung ; Rees, Mark I. ; Sherr, Elliott ; Sadleir, Lynette G. ; Goldstein, David B. ; Lowenstein, Daniel H. ; Møller, Rikke S. ; Berkovic, Samuel F. ; Scheffer, Ingrid E. ; Mefford, Heather C.

American journal of human genetics, 2016-08, Vol.99 (2), p.287-298 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Accelerated functional brain aging in pre-clinical familial Alzheimer's disease
Accelerated functional brain aging in pre-clinical familial Alzheimer's disease
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Accelerated functional brain aging in pre-clinical familial Alzheimer's disease

Gonneaud, Julie ; Baria, Alex T ; Pichet Binette, Alexa ; Gordon, Brian A ; Chhatwal, Jasmeer P ; Cruchaga, Carlos ; Jucker, Mathias ; Levin, Johannes ; Salloway, Stephen ; Farlow, Martin ; Gauthier, Serge ; Benzinger, Tammie L S ; Morris, John C ; Bateman, Randall J ; Breitner, John C S ; Poirier, Judes ; Vachon-Presseau, Etienne ; Villeneuve, Sylvia

Nature communications, 2021-09, Vol.12 (1), p.5346-5346, Article 5346 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Tatton-Brown, Katrina ; Murray, Anne ; Hanks, Sandra ; Douglas, Jenny ; Armstrong, Ruth ; Banka, Siddharth ; Bird, Lynne M. ; Clericuzio, Carol L. ; Cormier-Daire, Valerie ; Cushing, Tom ; Flinter, Frances ; Jacquemont, Marie-Line ; Joss, Shelagh ; Kinning, Esther ; Lynch, Sally Ann ; Magee, Alex ; McConnell, Vivienne ; Medeira, Ana ; Ozono, Keiichi ; Patton, Michael ; Rankin, Julia ; Shears, Debbie ; Simon, Marleen ; Splitt, Miranda ; Strenger, Volker ; Stuurman, Kyra ; Taylor, Clare ; Titheradge, Hannah ; Van Maldergem, Lionel ; Temple, I. Karen ; Cole, Trevor ; Seal, Sheila ; Rahman, Nazneen

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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6
Theragnostic chromosomal rearrangements in treatment‐naive pancreatic ductal adenocarcinomas obtained via endoscopic ultrasound
Theragnostic chromosomal rearrangements in treatment‐naive pancreatic ductal adenocarcinomas obtained via endoscopic ultrasound
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Theragnostic chromosomal rearrangements in treatment‐naive pancreatic ductal adenocarcinomas obtained via endoscopic ultrasound

Murphy, Stephen J. ; Levy, Michael J. ; Smadbeck, James B. ; Karagouga, Giannoula ; McCune, Alexa F. ; Harris, Faye R. ; Udell, Julia B. ; Johnson, Sarah H. ; Kerr, Sarah E. ; Cheville, John C. ; Kipp, Benjamin R. ; Vasmatzis, George ; Gleeson, Ferga C.

Journal of cellular and molecular medicine, 2021-04, Vol.25 (8), p.4110-4123 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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7
Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells
Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells
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Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells

Krafchak, Charles M. ; Pawar, Hemant ; Moroi, Sayoko E. ; Sugar, Alan ; Lichter, Paul R. ; Mackey, David A. ; Mian, Shahzad ; Nairus, Theresa ; Elner, Victor ; Schteingart, Miriam T. ; Downs, Catherine A. ; Kijek, Theresa Guckian ; Johnson, Jenae M. ; Trager, Edward H. ; Rozsa, Frank W. ; Ali Mandal, Md Nawajes ; Epstein, Michael P. ; Vollrath, Douglas ; Ayyagari, Radha ; Boehnke, Michael ; Richards, Julia E.

American journal of human genetics, 2005-11, Vol.77 (5), p.694-708 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Refined cut-off for TP53 immunohistochemistry improves prediction of TP53 mutation status in ovarian mucinous tumors: implications for outcome analyses
Refined cut-off for TP53 immunohistochemistry improves prediction of TP53 mutation status in ovarian mucinous tumors: implications for outcome analyses
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Refined cut-off for TP53 immunohistochemistry improves prediction of TP53 mutation status in ovarian mucinous tumors: implications for outcome analyses

Cheasley, Dane ; da Cunha Torres, Michelle ; Salazar, Carolina ; Xing, Zhongyue ; Mes-Masson, Anne-Marie ; Provencher, Diane M. ; Rahimi, Kurosh ; Fasching, Peter A. ; Goodman, Marc T. ; Deen, Suha ; Sieh, Weiva ; Mateoiu, Constantina ; Cook, Linda S. ; Le, Nhu D. ; Anglesio, Michael S. ; Chenevix-Trench, G. ; Traficante, N. ; Harrap, K. ; Sadkowsky, T. ; Mellon, A. ; Jones, M. ; Green, L. ; Ranieri, B. ; White, J. ; Bowes, L. ; Galletta, L. ; Giles, D. ; Hendley, J. ; Alsop, K. ; Young, C. ; Viduka, S. ; Glavinas, Lydia ; Rutovitz, J. ; Glasgow, A. ; Bonaventura, T. ; Begbie, S. ; Baron-Hay, S. ; Nevell, D. ; Valmadre, S. ; Marsden, D. ; Beale, P. ; Beith, J. ; Carter, J. ; Dalrymple, C. ; Brand, A. ; Byth, K. ; Jaworski, R. ; Papadimos, D. ; Crandon, A. ; Cummings, M. ; Horwood, K. ; Perrin, L. ; Wyld, D. ; Davy, M. ; Oehler, M.K. ; Hall, C. ; Henderson, D. ; Miller, J. ; Blomfield, P. ; Rome, R. ; Grant, P. ; Laurie, R. ; Robbie, M. ; Manolitsas, T. ; McNealage, J. ; Susil, B. ; Sumithran, E. ; Phillips, K. ; Rischin, D. ; Fox, S. ; Loughrey, M. ; Billson, V. ; Neesham, D. ; Quinn, M. ; Blum, R. ; Leung, Y. ; Buck, M. ; Purdie, D. ; Ramus, Susan J. ; Scott, Clare L. ; Köbel, Martin ; Gorringe, Kylie L. ; Allan, Prue E. ; Böhm, Maret ; Christie, Michael ; DeFazio, Anna ; Fairweather, Nicole ; Hadley, Alison M. ; Hendley, Joy ; Ho, Gwo-Yaw ; Huntsman, David G. ; Jobling, Tom W. ; Kennedy, Catherine J. ; Le Page, Cecile ; Pyman, Jan ; Rahimi, Kurosh ; Samimi, Goli ; Sharma, Ragwha ; Antill, Yoland C. ; Gorringe, Kylie L.

Modern pathology, 2021-01, Vol.34 (1), p.194-206 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Prospective Cost-Effectiveness Analysis of Cetuximab in Metastatic Colorectal Cancer: Evaluation of National Cancer Institute of Canada Clinical Trials Group CO.17 Trial
Prospective Cost-Effectiveness Analysis of Cetuximab in Metastatic Colorectal Cancer: Evaluation of National Cancer Institute of Canada Clinical Trials Group CO.17 Trial
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Prospective Cost-Effectiveness Analysis of Cetuximab in Metastatic Colorectal Cancer: Evaluation of National Cancer Institute of Canada Clinical Trials Group CO.17 Trial

Mittmann, Nicole ; Au, Heather-Jane ; Tu, Dongsheng ; O'Callaghan, Christopher J. ; Isogai, Pierre K. ; Karapetis, Christos S. ; Zalcberg, John R. ; Evans, William K. ; Moore, Malcolm J. ; Siddiqui, Jehan ; Findlay, Brian ; Colwell, Bruce ; Simes, John ; Gibbs, Peter ; Links, Matthew ; Tebbutt, Niall C. ; Jonker, Derek J.

JNCI : Journal of the National Cancer Institute, 2009-09, Vol.101 (17), p.1182-1192 [Periódico revisado por pares]

Cary, NC: Oxford University Press

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10
Association Between NRAS and BRAF Mutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma
Association Between NRAS and BRAF Mutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma
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Association Between NRAS and BRAF Mutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma

Thomas, Nancy E ; Edmiston, Sharon N ; Alexander, Audrey ; Groben, Pamela A ; Parrish, Eloise ; Kricker, Anne ; Armstrong, Bruce K ; Anton-Culver, Hoda ; Gruber, Stephen B ; From, Lynn ; Busam, Klaus J ; Hao, Honglin ; Orlow, Irene ; Kanetsky, Peter A ; Luo, Li ; Reiner, Anne S ; Paine, Susan ; Frank, Jill S ; Bramson, Jennifer I ; Marrett, Lorraine D ; Gallagher, Richard P ; Zanetti, Roberto ; Rosso, Stefano ; Dwyer, Terence ; Cust, Anne E ; Ollila, David W ; Begg, Colin B ; Berwick, Marianne ; Conway, Kathleen

JAMA oncology, 2015-06, Vol.1 (3), p.359-368 [Periódico revisado por pares]

United States: American Medical Association

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