학술논문
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'학술논문'
에서 검색결과 46건 | 목록
1~20
Academic Journal
Catherine E. Lovegrove; Michelle Goldsworthy; Jeremy Haley; Diane Smelser; Caroline Gorvin; Fadil M. Hannan; Anubha Mahajan; Mohnish Suri; Omid Sadeghi-Alavijeh; Shabbir H. Moochhala; Daniel P. Gale; David Carey; Michael V. Holmes; Dominic Furniss; Rajesh V. Thakker; Sarah A. Howles
The Journal of Clinical Investigation, Vol 135, Iss 15 (2025)
Academic Journal
Future Healthcare Journal, Vol 12, Iss 1, Pp 100236- (2025)
Academic Journal
Keith Siew; Kevin A. Nestler; Charlotte Nelson; Viola D’Ambrosio; Chutong Zhong; Zhongwang Li; Alessandra Grillo; Elizabeth R. Wan; Vaksha Patel; Eliah Overbey; JangKeun Kim; Sanghee Yun; Michael B. Vaughan; Chris Cheshire; Laura Cubitt; Jessica Broni-Tabi; Maneera Yousef Al-Jaber; Valery Boyko; Cem Meydan; Peter Barker; Shehbeel Arif; Fatemeh Afsari; Noah Allen; Mohammed Al-Maadheed; Selin Altinok; Nourdine Bah; Samuel Border; Amanda L. Brown; Keith Burling; Margareth Cheng-Campbell; Lorianna M. Colón; Lovorka Degoricija; Nichola Figg; Rebecca Finch; Jonathan Foox; Pouya Faridi; Alison French; Samrawit Gebre; Peter Gordon; Nadia Houerbi; Hossein Valipour Kahrood; Frederico C. Kiffer; Aleksandra S. Klosinska; Angela Kubik; Han-Chung Lee; Yinghui Li; Nicholas Lucarelli; Anthony L. Marullo; Irina Matei; Colleen M. McCann; Sayat Mimar; Ahmed Naglah; Jérôme Nicod; Kevin M. O’Shaughnessy; Lorraine Christine De Oliveira; Leah Oswalt; Laura Ioana Patras; San-huei Lai Polo; María Rodríguez-Lopez; Candice Roufosse; Omid Sadeghi-Alavijeh; Rebekah Sanchez-Hodge; Anindya S. Paul; Ralf Bernd Schittenhelm; Annalise Schweickart; Ryan T. Scott; Terry Chin Choy Lim Kam Sian; Willian A. da Silveira; Hubert Slawinski; Daniel Snell; Julio Sosa; Amanda M. Saravia-Butler; Marshall Tabetah; Erwin Tanuwidjaya; Simon Walker-Samuel; Xiaoping Yang; Yasmin; Haijian Zhang; Jasminka Godovac-Zimmermann; Pinaki Sarder; Lauren M. Sanders; Sylvain V. Costes; Robert A. A. Campbell; Fathi Karouia; Vidya Mohamed-Alis; Samuel Rodriques; Steven Lynham; Joel Ricky Steele; Sergio Baranzini; Hossein Fazelinia; Zhongquan Dai; Akira Uruno; Dai Shiba; Masayuki Yamamoto; Eduardo A.C.Almeida; Elizabeth Blaber; Jonathan C. Schisler; Amelia J. Eisch; Masafumi Muratani; Sara R. Zwart; Scott M. Smith; Jonathan M. Galazka; Christopher E. Mason; Afshin Beheshti; Stephen B. Walsh
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Academic Journal
Omid Sadeghi-Alavijeh; Melanie M.Y. Chan; Gabriel T. Doctor; Catalin D. Voinescu; Alexander Stuckey; Athanasios Kousathanas; Alexander T. Ho; Horia C. Stanescu; Detlef Bockenhauer; Richard N. Sandford; Adam P. Levine; Daniel P. Gale
The Journal of Clinical Investigation, Vol 134, Iss 19 (2024)
Academic Journal
Joel T. Gibson; Omid Sadeghi-Alavijeh; Daniel P. Gale; Hansjörg Rothe; Genomics England Research Consortium; Judy Savige
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Academic Journal
Joel T. Gibson; Mary Huang; Marina Shenelli Croos Dabrera; Krushnam Shukla; Hansjörg Rothe; Pascale Hilbert; Constantinos Deltas; Helen Storey; Beata S. Lipska-Ziętkiewicz; Melanie M. Y. Chan; Omid Sadeghi-Alavijeh; Daniel P. Gale; Genomics England Research Consortium; Agne Cerkauskaite; Judy Savige
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Academic Journal
Melanie MY Chan; Omid Sadeghi-Alavijeh; Filipa M Lopes; Alina C Hilger; Horia C Stanescu; Catalin D Voinescu; Glenda M Beaman; William G Newman; Marcin Zaniew; Stefanie Weber; Yee Mang Ho; John O Connolly; Dan Wood; Carlo Maj; Alexander Stuckey; Athanasios Kousathanas; Genomics England Research Consortium; Robert Kleta; Adrian S Woolf; Detlef Bockenhauer; Adam P Levine; Daniel P Gale
eLife, Vol 11 (2022)
Academic Journal
BMC Nephrology, Vol 19, Iss 1, Pp 1-6 (2018)
Academic Journal
Alistair Connell; Hugh Montgomery; Stephen Morris; Claire Nightingale; Sarah Stanley; Mary Emerson; Gareth Jones; Omid Sadeghi-Alavijeh; Charles Merrick; Dominic King; Alan Karthikesalingam; Cian Hughes; Joseph Ledsam; Trevor Back; Geraint Rees; Rosalind Raine; Christopher Laing
F1000Research, Vol 6 (2017)
Academic Journal
Alistair Connell; Hugh Montgomery; Stephen Morris; Claire Nightingale; Sarah Stanley; Mary Emerson; Gareth Jones; Omid Sadeghi-Alavijeh; Charles Merrick; Dominic King; Alan Karthikesalingam; Cian Hughes; Joseph Ledsam; Trevor Back; Geraint Rees; Rosalind Raine; Christopher Laing
F1000Research, Vol 6 (2017)
Academic Journal
Journal of the American Society of Nephrology.
Academic Journal
Tomas Visser; Shohdan M Osman; Kane Collins; Matti Sentürk; Elhussein A E Elhassan; Omid Sadeghi-Alavijeh; Daniel P Gale; Aarno Palotie; Teemu Niiranen; Peter J Conlon; Patrik Finne; Daniel Gordin
Nephrology Dialysis Transplantation. 40
Academic Journal
Academic Journal
Journal of the American Society of Nephrology.
Academic Journal
Valentina Cipriani; Letizia Vestito; Emma F. Magavern; Julius O. B. Jacobsen; Gavin Arno; Elijah R. Behr; Katherine A. Benson; Marta Bertoli; Detlef Bockenhauer; Michael R. Bowl; Kate Burley; Li F. Chan; Patrick Chinnery; Peter J. Conlon; Marcos A. Costa; Alice E. Davidson; Sally J. Dawson; Elhussein A. E. Elhassan; Sarah E. Flanagan; Marta Futema; Daniel P. Gale; Sonia García-Ruiz; Cecilia Gonzalez Corcia; Helen R. Griffin; Sophie Hambleton; Amy R. Hicks; Henry Houlden; Richard S. Houlston; Sarah A. Howles; Robert Kleta; Iris Lekkerkerker; Siying Lin; Petra Liskova; Hannah H. Mitchison; Heba Morsy; Andrew D. Mumford; William G. Newman; Ruxandra Neatu; Edel A. O’Toole; Albert C. M. Ong; Alistair T. Pagnamenta; Shamima Rahman; Neil Rajan; Peter N. Robinson; Mina Ryten; Omid Sadeghi-Alavijeh; John A. Sayer; Claire L. Shovlin; Jenny C. Taylor; Omri Teltsh; Ian Tomlinson; Arianna Tucci; Clare Turnbull; Albertien M. van Eerde; James S. Ware; Laura M. Watts; Andrew R. Webster; Sarah K. Westbury; Sean L. Zheng; Mark Caulfield; Damian Smedley
Cipriani, V, Vestito, L, Magavern, E F, Jacobsen, J O B, Arno, G, Behr, E R, Benson, K A, Bertoli, M, Bockenhauer, D, Bowl, M R, Burley, K, Chan, L F, Chinnery, P, Conlon, P J, Costa, M A, Davidson, A E, Dawson, S J, Elhassan, E A E, Flanagan, S E, Futema, M, Gale, D P, Garcia-Ruiz, S, Corcia, C G, Griffin, H R, Hambleton, S, Hicks, A R, Houlden, H, Houlston, R S, Howles, S A, Kleta, R, Lekkerkerker, I, Lin, S, Liskova, P, Mitchison, H H, Morsy, H, Mumford, A D, Newman, W G, Neatu, R, O'Toole, E A, Ong, A C M, Pagnamenta, A T, Rahman, S, Rajan, N, Robinson, P N, Ryten, M, Sadeghi-Alavijeh, O, Sayer, J A, Shovlin, C L, Taylor, J C, Teltsh, O, Tomlinson, I, Tucci, A, Turnbull, C, van Eerde, A M, Ware, J S, Watts, L M, Webster, A R, Westbury, S K, Zheng, S L, Caulfield, M & Smedley, D 2025, 'Rare disease gene association discovery in the 100,000 Genomes Project', Nature. https://doi.org/10.1038/s41586-025-08623-w
Academic Journal
Academic Journal
Mallory L. Downie; Sanjana Gupta; Melanie M. Y. Chan; Omid Sadeghi-Alavijeh; Jingjing Cao; Rulan S. Parekh; Carmen Bugarin Diz; Agnieszka Bierzynska; Adam P. Levine; Ruth J. Pepper; Horia Stanescu; Moin A. Saleem; Robert Kleta; Detlef Bockenhauer; Ania B. Koziell; Daniel P. Gale
Pediatr Nephrol
Downie, M L, Gupta, S, Chan, M M Y, Sadeghi-Alavijeh, O, Cao, J, Parekh, R S, Diz, C B, Bierzynska, A, Levine, A P, Pepper, R J, Stanescu, H, Saleem, M A, Kleta, R, Bockenhauer, D, Koziell, A B & Gale, D P 2023, 'Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome', Pediatric Nephrology, vol. 38, no. 6, pp. 1793-1800. https://doi.org/10.1007/s00467-022-05789-7
Downie, M L, Gupta, S, Chan, M M Y, Sadeghi-Alavijeh, O, Cao, J, Parekh, R S, Diz, C B, Bierzynska, A, Levine, A P, Pepper, R J, Stanescu, H, Saleem, M A, Kleta, R, Bockenhauer, D, Koziell, A B & Gale, D P 2023, 'Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome', Pediatric Nephrology, vol. 38, no. 6, pp. 1793-1800. https://doi.org/10.1007/s00467-022-05789-7
Academic Journal
Mallory L Downie; Sanjana Gupta; Catalin Voinescu; Adam P Levine; Omid Sadeghi-Alavijeh; Stephanie Dufek-Kamperis; Jingjing Cao; Martin Christian; Jameela A Kari; Shenal Thalgahagoda; Randula Ranawaka; Asiri Abeyagunawardena; Rasheed Gbadegesin; Rulan Parekh; Robert Kleta; Detlef Bockenhauer; Horia C Stanescu; Daniel P Gale
Kidney Int Rep
Downie, M L, Gupta, S, Voinescu, C, Levine, A P, Sadeghi-Alavijeh, O, Dufek-Kamperis, S, Cao, J, Christian, M, Kari, J A, Thalgahagoda, S, Ranawaka, R, Abeyagunawardena, A, Gbadegesin, R, Parekh, R, Kleta, R, Bockenhauer, D, Stanescu, H C & Gale, D P 2023, 'Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome', Kidney International Reports, vol. 8, no. 8, pp. 1562-1574. https://doi.org/10.1016/j.ekir.2023.05.018
Downie, M L, Gupta, S, Voinescu, C, Levine, A P, Sadeghi-Alavijeh, O, Dufek-Kamperis, S, Cao, J, Christian, M, Kari, J A, Thalgahagoda, S, Ranawaka, R, Abeyagunawardena, A, Gbadegesin, R, Parekh, R, Kleta, R, Bockenhauer, D, Stanescu, H C & Gale, D P 2023, 'Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome', Kidney International Reports, vol. 8, no. 8, pp. 1562-1574. https://doi.org/10.1016/j.ekir.2023.05.018
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[AR] Omid Sadeghi-Alavijeh
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