학술논문
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'학술논문'
에서 검색결과 64건 | 목록
1~20
Academic Journal
Jawaid, Tabinda; Elbarougy, Doaa E.; Lavu, Sravanthi; Buia, Guillaume; Senum, Sarah R.; Olinger, Eric; Yang, Hana; McDonnell, Shannon K.; Bublitz, Joshua T.; Ma, Jun; Audrézet, Marie-Pierre; Madsen, Charles D.; Schauer, Rachel S.; Baker, Tracy A.; Gregory, Adriana V.; Orr, Sarah E.; Barroso-Gil, Miguel; Neatu, Ruxandra; Joli, Giancarlo; Dahl, Neera K.; Kline, Timothy L.; Gillion, Valentine; Dahan, Karin; Jouret, Francois; Perrone, Ronald D.; Steinman, Theodore I.; Peters, Dorien J.M.; Gitomer, Berenice Y.; Watnick, Terry J.; Coto, Eliecer; Chebib, Fouad T.; Hogan, Marie C.; Olson, Janet E.; Larson, Nicholas B.; Ars, Elisabet; Halbritter, Jan; Demoulin, Nathalie; Torres, Vicente E.; Sayer, John A.; Cornec-Le Gall, Emilie; Harris, Peter C.
Journal of the American Society of Nephrology. Jun 01, 2025 36(6):1056-1071
Academic Journal
Orr, Sarah; Olinger, Eric; Iosifidou, Sotia; Barroso-Gil, Miguel; Neatu, Ruxandra; Wood, Katrina; Wilson, Ian; Genomics England Research Consortium; Sayer, John Andrew
Annals of human genetics, Vol. 88, no.1, p. 76-85 (2024)
Academic Journal
Devlin, Laura A; Coles, Janice; Jackson, Claire L; Barroso-Gil, Miguel; Green, Ben; Walker, Woolf T; Thomas, N Simon; Thompson, James; Rock, Simon A; Neatu, Ruxandra; Powell, Laura; Molinari, Elisa; Genomics England Research Consortium; Wilson, Ian J; Cordell, Heather J; Olinger, Eric; Miles, Colin G; Sayer, John A; Wheway, Gabrielle; Lucas, Jane S
Clin Genet
Clinical genetics, Vol. 103, no.3, p. 330-334 (2023)
Clinical genetics, Vol. 103, no.3, p. 330-334 (2023)
Academic Journal
Lemoine, Hugo; Raud, Loann; Foulquier, François; Sayer, John A; Olinger, Eric; Lefèvre, Siriane; Knebelmann, Bertrand; Harris, Peter C; Trouvé, Pascal; Desprès, Aurore; Duneau, Gabrielle; Matignon, Marie; Poyet, Anais; Jourde-Chiche, Noémie; Guerrot, Dominique; Lemoine, Sandrine; Seret, Guillaume; Barroso-Gil, Miguel; Bingham, Coralie; Gilbert, Rodney; Genomics England Research Consortium; Genkyst Study Group; Le Meur, Yannick; Audrézet, Marie-Pierre; Cornec-Le Gall, Emilie
American journal of human genetics, Vol. 109, no.8, p. 1484-1499 (2022)
Academic Journal
Olinger, Eric; Wilson, Ian J.; Orr, Sarah; Barroso-Gil, Miguel; Neatu, Ruxandra; Atan, Denize; Sayer, John A.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.
Genetics in Medicine Open. 2
Academic Journal
Geraghty, Robert M.; Orr, Sarah; Olinger, Eric; Neatu, Ruxandra; Barroso-Gil, Miguel; Mabillard, Holly; Consortium, Genomics England Research; Wilson, Ian; Sayer, John A.
Journal of Rare Diseases. 2(1)
Academic Journal
Eric Olinger; Intisar Al Alawi; Mohammed S. Al Riyami; Isa Al Salmi; Elisa Molinari; Eissa Ali Faqeih; Mohamed H. Al‐Hamed; Miguel Barroso‐Gil; Laura Powell; Abdulrahman A. Al‐Hussaini; Khawla A. Rahim; Naif A. M. Almontashiri; Colin Miles; Shirlee Shril; Friedhelm Hildebrandt; Genomics England Research Consortium; Ian J. Wilson; John A. Sayer
Human mutation, Vol. 42, no.10, p. 1221-1228 (2021)
Academic Journal
Biochemical Society transactions, Vol. 49, no.3, p. 1205-1220 (2021)
Academic Journal
Huynh, Vinh T.; Audrézet, Marie-Pierre; Sayer, John A.; Ong, Albert C.; Lefevre, Siriane; Le Brun, Valoris; Després, Aurore; Senum, Sarah R.; Chebib, Fouad T.; Barroso-Gil, Miguel; Patel, Chirag; Mallett, Andrew J.; Goel, Himanshu; Mallawaarachchi, Amali C.; van Eerde, Albertien M.; Ponlot, Eléonore; Kribs, Marc; Le Meur, Yannick; Harris, Peter C.; Cornec-Le Gall, Emilie
Kidney International. 98:476-487
Academic Journal
María Teruel; Guillermo Barturen; Manuel Martínez-Bueno; Olivia Castellini-Pérez; Miguel Barroso-Gil; Elena Povedano; Martin Kerick; Francesc Català-Moll; Zuzanna Makowska; Anne Buttgereit; PRECISESADS Clinical Consortium; PRECISESADS Flow Cytometry Study Group; Jacques-Olivier Pers; Concepción Marañón; Esteban Ballestar; Javier Martin; Elena Carnero-Montoro; Marta E. Alarcón-Riquelme
Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)
Academic Journal
Jawaid, Tabinda; Elbarougy, Doaa E.; Lavu, Sravanthi; Buia, Guillaume; Senum, Sarah R.; Olinger, Eric; Yang, Hana; Mcdonnell, Shannon K.; Bublitz, Joshua T.; Ma, Jun; Audrezet, Marie-Pierre; Madsen, Charles D.; Schauer, Rachel S.; Baker, Tracy A.; Gregory, Adriana V.; Orr, Sarah E.; Barroso-Gil, Miguel; Neatu, Ruxandra; Joli, Giancarlo; Dahl, Neera K.; Kline, Timothy L.; Gillion, Valentine; Dahan, Karin; Jouret, Francois; Perrone, Ronald D.; Steinman, Theodore I.; Peters, Dorien J. M.; Gitomer, Berenice Y.; Watnick, Terry J.; Coto, Eliecer; Chebib, Fouad T.; Hogan, Marie C.; Olson, Janet E.; Larson, Nicholas B.; Ars, Elisabet; Halbritter, Jan; Demoulin, Nathalie; Torres, Vicente E.; Sayer, John A.; Cornec-Le Gall, Emilie; Harris, Peter C.; Genomics England Res Consortium; UK Biobank; HALT PKD; DIPAK; TAME PKD; Genkyst Studies; Mayo Clinic Biobank; Regeneron Genetics Ctr
Academic Journal
Latour, Brooke L.; Van De Weghe, Julie C.; Rusterholz, Tamara D.S.; Letteboer, Stef J.F.; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E.; van Reeuwijk, Jeroen; van Beersum, Sylvia E.C.; Miller, Caitlin V.; Dempsey, Jennifer C.; Morsy, Heba; Bamshad, Michael J.; Nickerson, Deborah A.; Neuhauss, Stephan C.F.; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A.; Alkuraya, Fowzan S.; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan
Journal of Clinical Investigation. August, 2020, Vol. 130 Issue 8, p4423, 17 p.
Academic Journal
Miguel Barroso‐Gil; Eric Olinger; Simon A. Ramsbottom; Elisa Molinari; Colin G. Miles; John A. Sayer
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Academic Journal
Intisar Al Alawi; Mohammed Al Riyami; Miguel Barroso-Gil; Laura Powell; Eric Olinger; Issa Al Salmi; John A. Sayer
F1000Research, Vol 10 (2021)
Academic Journal
Eric Olinger; Intisar Al Alawi; Elisa Molinari; Eissa Ali Faqeih; Mohamed Al Hamed; Miguel Barroso-Gil; Ian Wilson; Genomics England Research Consortium; John Sayer
Nephrology Dialysis Transplantation. 36
Academic Journal
Teruel, María; Barturen, Guillermo; Martínez Bueno, Manuel; Castellini Pérez, Olivia; Barroso Gil, Miguel; Povedano, Elena; Kerick, Martin; Català Moll, Francesc; Makowska, Zuzanna; Buttgereit, Anne; Beretta, Lorenzo; Kniesch, Katja; Li, Tianlu; López Pedrera, Chary; Marañón, Concepción; Muchmore, Brian; Neves, Esmeralda; Rouvière, Bénédicte; Simon, Quentin; Trombetta, Elena; Varela, Nieves; Witte, Torsten; Pers, Jacques-Olivier; Ballestar Tarín, Esteban; Martin, Javier; Carnero Montoro, Elena; Alarcón Riquelme, Marta; PRECISESADS Clinical Consortium; PRECISESADS Flow Cytometry Study Group; Vigone, Barbara; Saraux, Alain; Devauchelle-Pensec, Valérie; Cornec, Divi; Jousse-Joulin, Sandrine; Lauwerys, Bernard; Ducreux, Julie; Maudoux, Anne-lise; Vasconcelos, Carlos; Tavares, Ana; Faria, Raquel; Brandão, Mariana; Campar, Ana; Marinho, António; Farinha, Fátima; Almeida, Isabel; Gonzalez-Gay Mantecón, Miguel Ángel; Blanco Alonso, Ricardo; Corrales Martínez, Alfonso; Cervera i Segura, Ricard, 1960; Rodríguez Pintó, Ignasi; Espinosa Garriga, Gerard; Lories, Rik; Langhe, Ellen de; Hunzelmann, Nicolas; Belz, Doreen; Baerlecken, Niklas; Stummvoll, Georg; Zauner, Michael; Lehner, Michaela; Collantes, Eduardo; Ortega Castro, Rafaela; Aguirre Zamorano, Mª. Ángeles; Escudero Contreras, Alejandro; Castro Villegas, Mª Carmen; Ortego, Norberto; Fernández Roldán, María Concepción; Raya, Enrique; Jiménez Moleón, Inmaculada; Ramon, Enrique de; Díaz Quintero, Isabel; Meroni, Pier Luigi; Gerosa, Maria; Schioppo, Tommaso; Artusi, Carolina; Chizzolini, Carlo; Zuber, Aleksandra; Wynar, Donatienne; Kovács, Laszló; Balog, Attila; Deák, Magdolna; Bocskai, Márta; Dulic, Sonja; Kádár, Gabriella; Hiepe, Falk; Gerl, Velia; Thiel, Silvia; Rodriguez Maresca, Manuel; López Berrio, Antonio; Aguilar Quesada, Rocío; Navarro Linares, Héctor; Alvarez, Montserrat; Álvarez Errico, Damiana; Azevedo, Nancy; Barbarroja, Nuria; Cheng, Qingyu; Cremer, Jonathan; Groof, Aurélie de; Dufour, Aleksandra; Hernández Fuentes, María; Khodadadi, Laleh
Articles publicats en revistes (Medicina)
Dipòsit Digital de la UB
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Dipòsit Digital de la UB
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Academic Journal
Laura Powell; Eric Olinger; Sarah Wedderburn; Vijayalakshmi Salem Ramakumaran; Usha Kini; Jill Clayton-Smith; Simon C Ramsden; Sarah J Rice; Miguel Barroso-Gil; Ian Wilson; Lorraine Cowley; Sally Johnson; Elizabeth Harris; Tara Montgomery; Marta Bertoli; Eugen Boltshauser; John A Sayer
Brain Commun
Academic Journal
Pediatric Neurology. 112:10-10
Academic Journal
Tabinda Jawaid; Doaa E. Elbarougy; Sravanthi Lavu; Guillaume Buia; Sarah R. Senum; Eric Olinger; Hana Yang; Shannon K. McDonnell; Joshua T. Bublitz; Jun Ma; Marie-Pierre Audrézet; Charles D. Madsen; Rachel S. Schauer; Tracy A. Baker; Adriana V. Gregory; Sarah E. Orr; Miguel Barroso-Gil; Ruxandra Neatu; Giancarlo Joli; Neera K. Dahl; Timothy L. Kline; Valentine Gillion; Karin Dahan; Francois Jouret; Ronald D. Perrone; Theodore I. Steinman; Dorien J.M. Peters; Berenice Y. Gitomer; Terry J. Watnick; Eliecer Coto; Fouad T. Chebib; Marie C. Hogan; Janet E. Olson; Nicholas B. Larson; Elisabet Ars; Jan Halbritter; Nathalie Demoulin; Vicente E. Torres; John A. Sayer; Emilie Cornec-Le Gall; Peter C. Harris
Clinical & Experimental Allergy. 49
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