학술논문
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'학술논문'
에서 검색결과 157건 | 목록
1~20
Academic Journal
Tu, Tiffany ; Ochoa, Alejandro ; Sood, Amika ; Dabrik, Ashley ; Chryst-Stangl, Megan ; Lane, Brandon ; Wu, Guanghong ; Donovan, Frank ; Harper, Ursula ; Chandrasekharappa, Settara ; Esezobor, Christopher ; Solarin, Adaobi ; Hooper, David ; Sethna, Christine ; Amaral, Sandra ; Kallash, Mahmoud ; Rheault, Michelle ; Verghese, Priya ; Dharnidharka, Vikas ; Salmon, Eloise ; Weng, Patricia ; Srivastava, Tarak ; Seifert, Michael E. ; Pruette, Cozumel ; Selewski, David ; Gibson, Keisha ; Hunley, Tracy ; Abeyagunawardena, Asiri ; Thalgahagoda, Shenal ; Bagga, Arvind ; Sinha, Aditi ; Webb, Nicholas ; Greenbaum, Larry ; Gharavi, Ali ; Kiryluk, Krzysztof ; Kretzler, Matthias ; Guay-Woodford, Lisa ; Sanna-Cherchi, Simone ; Bierzynska, Agnieszka ; Koziell, Ania ; Welsh, Gavin ; Saleem, Moin ; Rotimi, Charles ; Chambers, Eileen ; Chan, Cliburn ; Jackson, Annette ; Adeyemo, Adebowale ; Gbadegesin, Rasheed
In Kidney International January 2026
Academic Journal
Colby, Elizabeth; Hayward, Samantha; Benavente, Melissa; Robertson, Fiona; Bierzynska, Agnieszka; Osborne, Amy; Parmesar, Kevon; Afzal, Maryam; Chapman, Tracey; Ullah, Fatima; Davies, Elaine; Nation, Michael; Cook, Wendy; Johnson, Tim; Andag, Uwe; Radresa, Olivier; Skroblin, Philipp; Bayerlova, Michaela; Unwin, Robert; Vuilleumier, Nicolas; Banks, Rosamonde E.; Braddon, Fiona; Koziell, Ania; Taal, Maarten W.; Welsh, Gavin I.; Saleem, Moin A.
Clinical Kidney Journal. August, 2024, Vol. 17 Issue 8, p1b, 10 p.
Academic Journal
Osborne, Amy J.; Bierzynska, Agnieszka; Colby, Elizabeth; Andag, Uwe; Kalra, Philip A.; Radresa, Olivier; Skroblin, Philipp; Taal, Maarten W.; Welsh, Gavin I.; Saleem, Moin A.; Campbell, Colin
npj Systems Biology and Applications. 10(1)
Academic Journal
Judy Savige; Beata S. Lipska-Zietkiewicz; Elizabeth Watson; Jens Michael Hertz; Constantinos Deltas; Francesca Mari; Pascale Hilbert; Pavlina Plevova; Peter Byers; Agne Cerkauskaite; Martin Gregory; Rimante Cerkauskiene; Danica Galesic Ljubanovic; Francesca Becherucci; Carmela Errichiello; Laura Massella; Valeria Aiello; Rachel Lennon; Louise Hopkinson; Ania Koziell; Adrian Lungu; Hansjorg Martin Rothe; Julia Hoefele; Miriam Zacchia; Tamara Nikuseva Martic; Asheeta Gupta; Albertien van Eerde; Susie Gear; Samuela Landini; Viviana Palazzo; Laith al-Rabadi; Kathleen Claes; Anniek Corveleyn; Evelien Van Hoof; Micheel van Geel; Maggie Williams; Emma Ashton; Hendica Belge; Elisabet Ars; Agnieszka Bierzynska; Concetta Gangemi; Alessandra Renieri; Helen Storey; Frances Flinter
Clinical Journal of the American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E,Bierzynska , A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
ClinIcal Journal of American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E,
ClinIcal Journal of American Society of Nephrology
Academic Journal
Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S.
Eur J Hum Genet
Savige, J, Storey, H, Watson, E, Hertz, J M, Deltas, C, Renieri, A, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E,Bierzynska , A, Gangemi, C & Lipska-Ziętkiewicz, B S 2021, ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ', European Journal of Human Genetics, vol. 29, no. 8, pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1
European Journal of Human Genetics
Savige, J, Storey, H, Watson, E, Hertz, J M, Deltas, C, Renieri, A, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E,
European Journal of Human Genetics
Academic Journal
Bierzynska, Agnieszka; Bull, Katherine; Miellet, Sara; Dean, Philip; Neal, Chris; Colby, Elizabeth; McCarthy, Hugh J; Hegde, Shivaram; Sinha, Manish D; Bugarin Diz, Carmen; Stirrups, Kathleen; Megy, Karyn; Mapeta, Rutendo; Penkett, Chris; Marsh, Sarah; Forrester, Natalie; Afzal, Maryam; Stark, Hannah; BioResource, Nihr; Williams, Maggie; Welsh, Gavin I; Koziell, Ania B; Hartley, Paul S; Saleem, Moin A
Pediatr Nephrol
Pediatric Nephrology
Bierzynska , A, Bull, K, Miellet, S, Dean, P, Neal, C, Colby, E, McCarthy, H J, Hegde, S, Sinha, M D, Bugarin Diz, C, Stirrups, K, Megy, K, Mapeta, R, Penkett, C, Marsh, S, Forrester, N, Afzal, M, Stark, H, BioResource, N, Williams, M, Welsh, G I, Koziell, A B, Hartley, P S & Saleem, M A 2022, 'Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model', Pediatric Nephrology, vol. 37, no. 11, pp. 2643-2656. https://doi.org/10.1007/s00467-022-05440-5
Bierzynska , A, Bull, K, Miellet, S, Dean, P, Neal, C, Colby, E, McCarthy, H J, Hegde, S, Sinha, M D, Bugarin Diz, C, Stirrups, K, Megy, K, Mapeta, R, Penkett, C, Marsh, S, Forrester, N, Afzal, M, Stark, H, BioResource, N, Williams, M, Welsh, G I, Koziell, A B, Hartley, P S & Saleem, M A 2022, ' Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model ', Pediatric Nephrology, vol. 37, no. 11, pp. 2643-2656 . https://doi.org/10.1007/s00467-022-05440-5
Pediatric Nephrology
Academic Journal
Weng, Patricia; Majmundar, Amar; Khan, Kamal; Lim, Tze; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina; Aggarwal, Vimla; Bier, Louise; Heinzen, Erin; Onuchic-Whitford, Ana; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas; Klämbt, Verena; Kolb, Amy; Mao, Youying; Moufawad El Achkar, Christelle; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo; Altmüller, Janine; Benz, Marcus; Yano, Shoji; Mikati, Mohamad; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa; Martinez-Agosto, Julian; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda; Parboosingh, Jillian; Innes, A; Bierzynska, Agnieszka; Koziell, Ania; Muorah, Mordi; Saleem, Moin; Hoefele, Julia; Riedhammer, Korbinian; Gharavi, Ali; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor; ODonnell-Luria, Anne; Rehm, Heidi; Mane, Shrikant; DAgati, Vivette; Pollak, Martin; Ghiggeri, Gian; Lifton, Richard; Goldstein, David; Davis, Erica; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone
American Journal of Human Genetics, vol 108, iss 2
Academic Journal
Pediatric Nephrology. November, 2021, Vol. 36 Issue 11, p3757, 13 p.
Academic Journal
Downie, Mallory L.; Gupta, Sanjana; Chan, Melanie M. Y.; Sadeghi-Alavijeh, Omid; Cao, Jingjing; Parekh, Rulan S.; Diz, Carmen Bugarin; Bierzynska, Agnieszka; Levine, Adam P.; Pepper, Ruth J.; Stanescu, Horia; Saleem, Moin A.; Kleta, Robert; Bockenhauer, Detlef; Koziell, Ania B.; Gale, Daniel P.
Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. :1-8
Academic Journal
Transl Pediatr
Bierzynska , A & Saleem, M A 2020, 'Genetic architecture of paediatric renal diseases in China and the need for data sharing', Translational Pediatrics, vol. 9, no. 3, pp. 202-205. https://doi.org/10.21037/tp-20-135
Academic Journal
Endocrinology. January, 2022, Vol. 163 Issue 1, p1j, 12 p.
Academic Journal
Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S.
European Journal of Human Genetics. 32(1):132-132
Academic Journal
Preston, Rebecca; Naylor, Richard W; Stewart, Graham; Bierzynska, Agnieszka; Saleem, Moin A; Lowe, Martin; Lennon, Rachel
Pediatric Nephrology. April, 2020, Vol. 35 Issue 4, p641, 8 p.
Academic Journal
Rhodes, Christopher J.; Batai, Ken; Bleda, Marta; Haimel, Matthias; Southgate, Laura; Germain, Marine; Pauciulo, Michael W.; Hadinnapola, Charaka; Aman, Jurjan; Girerd, Barbara; Arora, Amit; Knight, Jo; Hanscombe, Ken B.; Karnes, Jason H.; Kaakinen, Marika; Gall, Henning; Ulrich, Anna; Harbaum, Lars; Cebola, Ines; Ferrer, Jorge; Lutz, Katie; Swietlik, Emilia M.; Ahmad, Ferhaan; Amouyel, Philippe; Archer, Stephen L.; Argula, Rahul; Austin, Eric D.; Badesch, David; Bakshi, Sahil; Barnett, Christopher; Benza, Raymond; Bhatt, Nitin; Bogaard, Harm J.; Burger, Charles D.; Chakinala, Murali; Church, Colin; Coghlan, John G.; Condliffe, Robin; Corris, Paul A.; Danesino, Cesare; Debette, Stephanie; Elliott, C. Gregory; Elwing, Jean; Eyries, Melanie; Fortin, Terry; Franke, Andre; Frantz, Robert P.; Frost, Adaani; Garcia, Joe G.N.; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Harley, John; He, Hua; Hill, Nicholas S.; Hirsch, Russel; Houweling, Arjan C.; Howard, Luke S.; Ivy, Dunbar; Kiely, David G.; Klinger, James; Kovacs, Gabor; Lahm, Tim; Laudes, Matthias; Machado, Rajiv D.; Ross, Robert V. MacKenzie; Marsolo, Keith; Martin, Lisa J.; Moledina, Shahin; Montani, David; Nathan, Steven D.; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Oudiz, Ronald J.; Ouwehand, Willem H.; Peacock, Andrew J.; Pepke-Zaba, Joanna; Rehman, Zia; Robbins, Ivan; Roden, Dan M.; Rosenzweig, Erika B.; Saydain, Ghulam; Scelsi, Laura; Schilz, Robert; Seeger, Werner; Shaffer, Christian M.; Simms, Robert W.; Simon, Marc; Sitbon, Olivier; Suntharalingam, Jay; Tang, Haiyang; Tchourbanov, Alexander Y.; Thenappan, Thenappan; Torres, Fernando; Toshner, Mark R.; Treacy, Carmen M.; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Walsworth, Anna K.; Walter, Robert E.; Wharton, John; White, R. James; Wilt, Jeffrey; Wort, Stephen J.; Yung, Delphine; Lawrie, Allan; Humbert, Marc; Soubrier, Florent; Tregouet, David-Alexandre; Prokopenko, Inga; Kittles, Richard; Graf, Stefan; Nichols, William C.; Trembath, Richard C.; Desai, Ankit A.; Morrell, Nicholas W.; Wilkins, Martin R.; Adlard, Julian; Ahmed, Munaza; Aitman, Tim; Alachkar, Hana; Allsup, David; Almeida-King, Jeff; Ancliff, Philip; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Ashford, Sofie; Astle, William; Attwood, Anthony; Babbs, Chris; Bakchoul, Tamam; Bariana, Tadbir; Barwell, Julian; Bennett, David; Bentley, David; Bierzynska, Agnieszka; Biss, Tina; Bogaard, Harm; Bourne, Christian; Boyce, Sara; Bradley, John; Breen, Gerome; Brennan, Paul; Brewer, Carole; Brown, Matthew; Browning, Michael; Buchan, Rachel; Buckland, Matthew; Bueser, Teofila; Burns, Siobhan; Burren, Oliver; Calleja, Paul; Carr-White, Gerald; Carss, Keren; Casey, Ruth; Caulfield, Mark; Chambers, John; Chambers, Jennifer; Cheng, Floria; Chinnery, Patrick F.; Christian, Martin; Brod, Naomi Clements; Coghlan, Gerry; Colby, Elizabeth; Cole, Trevor; Collins, Janine; Collins, Peter; Colombo, Camilla; Cook, Stuart; Cook, Terry; Cooper, Nichola; Corris, Paul; Crisp-Hihn, Abigail; Curry, Nicola; Daniels, Matthew; Daugherty, Louise; Davis, John; Deevi, Sri V.V.; Dent, Timothy; Dewhurst, Eleanor; Dixon, Peter; Downes, Kate; Drazyk, Anna; Drewe, Elizabeth; Dutt, Tina; Edgar, David; Edwards, Karen; Egner, William; Erber, Wendy; Erwood, Marie; Estiu, Maria C.; Evans, Gillian; Evans, Dafydd Gareth; Everington, Tamara; Eyries, Mlanie; Favier, Remi; Fletcher, Debra; Fox, James; Frary, Amy; French, Courtney; Freson, Kathleen; Frontini, Mattia; Gale, Daniel; Geoghegan, Claire; Gerighty, Terry; Gibbs, Simon; Gilmour, Kimberley; Goddard, Sarah; Gomez, Keith; Gordins, Pavels; Gosal, David; Grassi, Luigi; Greene, Daniel; Greenhalgh, Lynn; Greinacher, Andreas; Gresele, Paolo; Griffiths, Philip; Grigoriadou, Sofia; Grocock, Russell; Grozeva, Detelina; Hackett, Scott; Hague, William; Hall, Matthew; Hanson, Helen; Harkness, Kirsty; Harper, Andrew; Harris, Claire; Hart, Daniel; Hassan, Ahamad; Hayman, Grant; Henderson, Alex; Hoffmann, Jonathan; Horvath, Rita; Houweling, Arjan; Howard, Luke; Hu, Fengyuan; Hudson, Gavin; Hughes, Joseph; Huissoon, Aarnoud; Humphray, Sean; Hunter, Sarah; Hurles, Matthew; Izatt, Louise; James, Roger; Johnson, Sally; Jolles, Stephen; Jolley, Jennifer; Jurkute, Neringa; Kasanicki, Mary; Kazkaz, Hanadi; Kazmi, Rashid; Kelleher, Peter; Kiely, David; Kingston, Nathalie; Klima, Robert; Kostadima, Myrto; Koziell, Ania; Kreuzhuber, Roman; Kuijpers, Taco; Kumar, Ajith; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael; Lalloo, Fiona; Lambert, Michele; Allen, Hana Lango; Layton, Mark; Lentaigne, Claire; Levine, Adam; Linger, Rachel; Longhurst, Hilary; Louka, Eleni; Ross, Robert MacKenzie; Madan, Bella; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Mapeta, Rutendo; Marchbank, Kevin; Marks, Stephen; Markus, Hugh S.; Marschall, Hanns-Ulrich; Marshall, Andrew; Martin, Jennifer; Mathias, Mary; Matthews, Emma; Maxwell, Heather; McAlinden, Paul; McCarthy, Mark; Meacham, Stuart; Mead, Adam; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn; Moore, Tony; Morrell, Nicholas; Mozere, Monika; Muir, Keith; Mumford, Andrew; O'Sullivan, Jennifer; Obaji, Samya; Okoli, Steven; Ong, Kai Ren; Ormondroyd, Elizabeth; Ouwehand, Willem; Papadia, Sofia; Park, Soo-Mi; Parry, David; Paterson, Joan; Peacock, Andrew; Peden, John; Peerlinck, Kathelijne; Penkett, Christopher; Petersen, Romina; Pyle, Angela; Rankin, Stuart; Rao, Anupama; Raymond, F. Lucy; Rayner-Matthews, Paula; Rees, Christine; Rendon, Augusto; Renton, Tara; Rice, Andrew; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Roughley, Catherine; Roy, Noemi; Sadeghi-Alavijeh, Omid; Saleem, Moin; Samani, Nilesh; Sanchis-Juan, Alba; Sargur, Ravishankar; Satchell, Simon; Savic, Sinisa; Schulman, Sol; Scully, Marie; Searle, Claire; Sewell, Carrock; Seyres, Denis; Shapiro, Susie; Sharmardina, Olga; Shtoyerman, Rakefet; Sibson, Keith; Side, Lucy; Simeoni, Ilenia; Simpson, Michael; Sivapalaratnam, Suthesh; Skytte, Anne-Bine; Smith, Katherine; Smith, Kenneth G.C.; Snape, Katie; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Swietlik, Emilia; Tait, R. Campbell; Talks, Kate; Tan, Rhea; Thaventhiran, James; Themistocleous, Andreas; Thomas, Moira; Thomson, Kate; Thrasher, Adrian; Thys, Chantal; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Traylor, Matthew; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Vale, Tom; Van Geet, Chris; Van Zuydam, Natalie; Vazquez-Lopez, Marta; Von Ziegenweidt, Julie; Waisfisz, Quintin; Walker, Suellen; Ware, James; Watkins, Hugh; Watt, Christopher; Webster, Andrew; Wei, Wei; Welch, Steven; Wessels, Julie; Westbury, Sarah; Westwood, John-Paul; Whitehorn, Deborah; Whitworth, James; Williamson, Catherine; Wong, Edwin; Wood, Nicholas; Wood, Yvette; Woods, Geoff; Woodward, Emma; Wort, Stephen; Worth, Austen; Yates, Katherine; Yong, Patrick; Young, Tim; Yu, Ping; Yu-Wai-Man, Patrick; Theuer, Alison; Malur, Anagha; Williams, Ann; Dotson, Anne; Warden, Ashley; Harrington, Brandy; Vang, Brenda; Ziemak, Caitlin; Casanova, Nancy; Caskey, Elizabeth; MacDonald, Catherine; Rowley, Courtney; Larimore, Daniel; Brady, Daniela; Tomer, David; Davis, Anne; Broach, Debra; Devereux, Jane; Lovato, Ellen; Stratton, Eric; Turk, Erin; Jackson, Esperanza; Paciotti, Gina; Peichel, Gretchen; Birru, Hellina; del Junco, Holly; Ingledue, Rebecca; Bruno, Jackie; Drake, Jan; Marks, Jennifer; Pisarcik, Jessica; Spears, Jill; Santiago, Joseph; DeMartino, Jordyn; Beckmann, Joy; Palmer, Julia; Visnaw, Karen; Kennedy, Karla; Lewis, Karlise; Miller-Reed, Kathleen; Hannon, Kelly; McClain, Kimberly; Dillon, Laura; Olanipekun, Lekan; Mendibles, Lillian; Hawke, Lindsey; Brody, Linnea; Durst, Louise; Andrews, Mary; Allahua, Melissa; Stratoberdha, Melissa; Lemma, Merte; Cope, Molly; Franzo, Mya; Feliz, Natalia; Hawkes, Nicholas; Norwood, Tracy; Wilson, Opal; Palmisciano, Amy; Gruhlke, Peggy; Correa, Priscilla; Blake, Randy; Karnekar, Reema; Do, Robyn; Rohwer, Kristal; Ahmed, Sara; Schiltz, Kimberly; Scovel, Page; Cordell, Shannon; Heuerman, Sharon; Ahmad, Shazzra; Szuberla, Sylwia; Roads, Tammy; Iem, Thoeun; Mcgaha, Traci; Urban, Tracy; Aston, Valerie; Ayesh, Waleed; Light, Allison; Arkon, Abby; Tavlarides, Andrea; Anderson, Audrey; Bindu, John; Boekwig, Deedre; Singleton, Donna; Abrea, Inna; Lee, Jennifer; Ormiston, Mark; Whitman, Renesa; Holy, Royanne; Almeida-Peters, Sisama; Igenoza, Tosin; Farber, Hap; Reponen, Auvo; Barve, Mukta; Gygi, Amber; Winslow, Clayborne
Lancet Respir Med
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, 'Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238. https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0
2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', The Lancet Respiratory Medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0
UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium & Daniels, M J 2019, 'Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis', The Lancet Respiratory Medicine, vol. 7, no. 3, pp. 227-238. https://doi.org/10.1016/S2213-2600(18)30409-0
The Lancet Respiratory Medicine, vol 7, iss 3
The Lancet Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, 'Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238. https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0
2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', The Lancet Respiratory Medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0
UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium & Daniels, M J 2019, 'Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis', The Lancet Respiratory Medicine, vol. 7, no. 3, pp. 227-238. https://doi.org/10.1016/S2213-2600(18)30409-0
The Lancet Respiratory Medicine, vol 7, iss 3
The Lancet Respiratory Medicine
Academic Journal
Zhu, Bingbing ; Cao, Aili ; Li, Jianhua ; Young, James ; Wong, Jenny ; Ashraf, Shazia ; Bierzynska, Agnieszka ; Menon, Madhav C. ; Hou, Steven ; Sawyers, Charles ; Campbell, Kirk N. ; Saleem, Moin A. ; He, John C. ; Hildebrandt, Friedhelm ; D’Agati, Vivette D. ; Peng, Wen ; Kaufman, Lewis
In Kidney International September 2019 96(3):642-655
Academic Journal
Dorval, Guillaume; Kuzmuk, Valeryia; Gribouval, Olivier; Welsh, Gavin; Bierzynska, Agnieszka; Schmitt, Alain; Miserey-Lenkei, Stéphanie; Koziell, Ania; Haq, Shuman; Benmerah, Alexandre; Mollet, Géraldine; Boyer, Olivia; Saleem, Moin; Antignac, Corinne
Dorval, G, Kuzmuk, V, Gribouval, O, Welsh, G, Bierzynska , A, Schmitt, A, Miserey-Lenkei, S, Koziell, A, Haq, S, Benmerah, A, Mollet, G, Boyer, O, Saleem, M & Antignac, C 2019, 'TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways', American Journal of Human Genetics, vol. 104, no. 2, pp. 348-355. https://doi.org/10.1016/j.ajhg.2018.12.016
Academic Journal
Pediatric Nephrology. November, 2018, Vol. 33 Issue 11, p2027, 9 p.
Academic Journal
Bierzynska, Agnieszka ; McCarthy, Hugh J. ; Soderquest, Katrina ; Sen, Ethan S. ; Colby, Elizabeth ; Ding, Wen Y. ; Nabhan, Marwa M. ; Kerecuk, Larissa ; Hegde, Shivram ; Hughes, David ; Marks, Stephen ; Feather, Sally ; Jones, Caroline ; Webb, Nicholas J.A. ; Ognjanovic, Milos ; Christian, Martin ; Gilbert, Rodney D. ; Sinha, Manish D. ; Lord, Graham M. ; Simpson, Michael ; Koziell, Ania B. ; Welsh, Gavin I. ; Saleem, Moin A.
In Kidney International April 2017 91(4):937-947
Academic Journal
Sen, Ethan S; Dean, Philip; Yarram-Smith, Laura; Bierzynska, Agnieszka; Woodward, Geoff; Buxton, Chris; Dennis, Gemma; Welsh, Gavin I; Williams, Maggie; Saleem, Moin A
J Med Genet
Sen, E S, Dean, P, Yarram-Smith, L,Bierzynska , A, Woodward, G, Buxton, C, Dennis, G, Welsh, G I, Williams, M & Saleem, M A 2017, 'Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel : analysis and recommendations', Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2017-104811
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