Zobrazeno 1 - 10
of 627
pro vyhledávání: '"K. A. Gibson"'
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background C3 glomerulonephritis is a recently described entity with heterogeneous histopathological features. This study was conducted to assess the effect of reclassification of C3 glomerulopathies on renal outcomes, mortality, and respons
Externí odkaz:
https://doaj.org/article/0ecad35dda624f6b8c7e2fec3ba1a835
Autor:
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental Disabilities Researc
Externí odkaz:
https://doaj.org/article/cb335a1bff7e48c685c43cab55795ad8
Autor:
Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, Sarah H. Elsea
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence o
Externí odkaz:
https://doaj.org/article/29eec710b9ad4cdf9ea448935aba96f4
Autor:
Nazmiye B. Yapici, Xiang Gao, Xin Yan, Shanshan Hou, Steffen Jockusch, Lillian Lesniak, K. Michael Gibson, Lanrong Bi
Publikováno v:
ACS Omega, Vol 6, Iss 47, Pp 31447-31456 (2021)
Externí odkaz:
https://doaj.org/article/a8002a292f8a4fc7b531da388c4465e3
Autor:
Wei Bi, Yue Bi, Pengfei Li, Shanshan Hou, Xin Yan, Connor Hensley, Yanrong Zhang, Steffen Jockusch, Thomas D. Legalley, K. Michael Gibson, Lanrong Bi
Publikováno v:
ACS Omega, Vol 4, Iss 6, Pp 9868-9877 (2019)
Externí odkaz:
https://doaj.org/article/7632039cd64b42549fa9a88e2a8975bb
Autor:
Jeevan B. GC, Christopher T. Szlenk, Ayobami Diyaolu, Peter Obi, Haiyang Wei, Xutong Shi, K. Michael Gibson, Senthil Natesan, Jean-Baptiste Roullet
Publikováno v:
Biophysical Journal. 122:849-867
Autor:
Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100694- (2020)
Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs
Externí odkaz:
https://doaj.org/article/16075265bf244d0896a01a56d9b2f300
Publikováno v:
Journal of Inherited Metabolic Disease.
Autor:
D.P. Cook, C. Thomas, A. Wu, M. Rusznak, J. Zhang, W. Zhou, J.Y. Cephus, K. Corley-Gibson, V.V. Polosukhin, A. Norlander, D.C. Newcomb, D.A. Stoltz, R.S. Peebles
Publikováno v:
C13. CYTOKINES: CYTOKINES IN THE AIRWAYS.
Autor:
Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin, Daniyal Sachee, Alexander Rotenberg, Henry H. C. Lee, Deniz Aygun, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Jean‐Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl
Publikováno v:
Epilepsia.