Zobrazeno 1 - 10
of 194
pro vyhledávání: '"William G. Wilson"'
Publikováno v:
Case Reports in Ophthalmological Medicine, Vol 2021 (2021)
Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental d
Externí odkaz:
https://doaj.org/article/8cb07b6a18c94b0a96eae5040005f227
Autor:
William G. Wilson
As cities grow and climates change, precipitation increases, and with every great storm—from record-breaking Boston blizzards to floods in Houston—come buckets of stormwater and a deluge of problems. In Stormwater, William G. Wilson brings us the
Autor:
William G. Wilson
As our world becomes increasingly urbanized, an understanding of the context, mechanisms, and consequences of city and suburban environments becomes more critical. Without a sense of what open spaces such as parks and gardens contribute, it's difficu
The first book entirely devoted to this topic, Ecosystem Engineers begins with the history of the concept, presenting opposing definitions of ecosystem engineeing. These varied definitions advance the debate and move past trivial difficulties to crys
Autor:
M. Laura Duque Lasio, Angela C. Leshinski, Nicole H. Ducich, Leigh Anne Flore, April Lehman, Natasha Shur, Parul B. Jayakar, Bryan E. Hainline, Alice A. Basinger, William G. Wilson, George A. Diaz, Richard W. Erbe, Dwight D. Koeberl, Jerry Vockley, Jirair K. Bedoyan
Publikováno v:
Molecular Genetics and Metabolism. 139:107605
Autor:
William G. Wilson, Amy W. Lamm, Zachary Willis, Andrea Hayes-Jordan, Michael R. Phillips, Kathleen Marulanda, Robin D Koonce, Sean E. McLean
Publikováno v:
The American Surgeon. 88:1146-1152
Background The efficacy of clinical decision support (CDS) tools to promote antibiotic stewardship in pediatric appendicitis remains poorly understood. Here, we developed an electronic order panel (OP) to assist with decreased utilization of extended
Autor:
Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro‐Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim
Publikováno v:
MOVEMENT DISORDERS
MOVEMENT DISORDERS, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩
MOVEMENT DISORDERS, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩
Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype
Autor:
Judith A. Westman, Gerald L. Feldman, Darrel Waggoner, Helga V. Toriello, William G. Wilson, Cynthia M. Powell, Shoumita Dasgupta
Publikováno v:
Genetics in Medicine. 22:1718-1722
To assess the utilization of genetics on the United States Medical Licensing Examination (USMLE®). A team of clinical genetics educators performed an analysis of the representation of genetics content on a robust sample of recent Step 1, Step 2 Clin
Autor:
Nina McTiernan, Lisbeth Tranebjærg, Anna S. Bjørheim, Jacob S. Hogue, William G. Wilson, Berkley Schmidt, Melissa M. Boerrigter, Maja L. Nybo, Marie F. Smeland, Zeynep Tümer, Thomas Arnesen
Publikováno v:
Human Genetics
Human Genetics, 141, 1355-1369
McTiernan, N, Tranebjærg, L, Bjørheim, A S, Hogue, J S, Wilson, W G, Schmidt, B, Boerrigter, M M, Nybo, M L, Smeland, M F, Tümer, Z & Arnesen, T 2022, ' Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation ', Human Genetics, vol. 141, pp. 1355–1369 . https://doi.org/10.1007/s00439-021-02427-4
Human Genetics, 141, 1355-1369
McTiernan, N, Tranebjærg, L, Bjørheim, A S, Hogue, J S, Wilson, W G, Schmidt, B, Boerrigter, M M, Nybo, M L, Smeland, M F, Tümer, Z & Arnesen, T 2022, ' Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation ', Human Genetics, vol. 141, pp. 1355–1369 . https://doi.org/10.1007/s00439-021-02427-4
NAA10 is the catalytic subunit of the N-terminal acetyltransferase complex, NatA, which is responsible for N-terminal acetylation of nearly half the human proteome. Since 2011, at least 21 different NAA10 missense variants have been reported as patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85028bb7bef013de9253d0a2020abaa2
https://hdl.handle.net/11250/2997244
https://hdl.handle.net/11250/2997244
Autor:
Precilla D'Souza, Jennie E. Murray, Alper Gezdirici, Andrew P. Jackson, Gregory Gimenez, Louise S. Bicknell, Carlos Ferreira, Karen M Knapp, William G. Wilson, Pamela Arn, Rosie Sullivan
Publikováno v:
Journal of Medical Genetics
MaterialLinked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton sequencing in place of traditional trio-based designs while generating informative-phased variants, effective for recessive disorders when paren