Zobrazeno 1 - 10
of 272
pro vyhledávání: '"Richard Chang"'
Autor:
Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101025- (2024)
Background: LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies fro
Externí odkaz:
https://doaj.org/article/1a45fc52d11a4d23afe8ed165c1b53b1
Autor:
Caide Bier, Kaelin Dickey, Hans Andersson, Markey McNutt, Danielle Vice, Erin Cooney, Megan Morand, Joseph Ray, Rebecca Sponberg, Richard Chang, Monica Boyer, Brittan Bibb, Angela Crutcher, Melissa Lah, Laura Davis-Keppen, Cindy Matthes
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100878- (2024)
Externí odkaz:
https://doaj.org/article/4061813e303549e2848fd3b23fc9c1a9
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100885- (2022)
S-Adenosylhomocysteine (SAH) hydrolase deficiency is an autosomal recessive disorder in methionine metabolism caused by pathogenic variants in the gene AHCY. To date, only 15 patients with this disorder have been reported, including several patients
Externí odkaz:
https://doaj.org/article/7bfa90a56a824c9f832467c635b38698
Publikováno v:
Sensors, Vol 23, Iss 12, p 5470 (2023)
Recent advancements in 3D deep learning have led to significant progress in improving accuracy and reducing processing time, with applications spanning various domains such as medical imaging, robotics, and autonomous vehicle navigation for identifyi
Externí odkaz:
https://doaj.org/article/da8383402e794d15b687107ace38dd7e
Autor:
Monica Boyer, Janette Skaar, Mary Sowa, Justin R. Tureson, Cristel C. Chapel-Crespo, Richard Chang
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100713- (2021)
Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels. Poorly controlled Phe levels in women of childbearing age are particularly worriso
Externí odkaz:
https://doaj.org/article/fed530e471ef49c2b7bf7a52f0e54a81
Autor:
Alexander Richard Chang
Publikováno v:
The Owl, Vol 10, Iss 1 (2020)
This paper explores the character development of Tevye in the musical Fiddler on the Roof and his similarities with the play’s subsequent adaptations since its conception. The research concluded came from a plethora of resources including books, or
Externí odkaz:
https://doaj.org/article/1856f89b24bb4f13962e6e8853d19546
Autor:
Cristel C. Chapel-Crespo, Ricardo Villalba, Raymond Wang, Monica Boyer, Richard Chang, Hans R. Waterham, Jose E. Abdenur
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100608- (2020)
Externí odkaz:
https://doaj.org/article/d0e4a570f8cd4a7ba27e5a1a7d1b77d6
Autor:
Ariane Soldatos, Thomas B Nutman, Tory Johnson, Scott F Dowell, James J Sejvar, Michael R Wilson, Joseph L DeRisi, Sara K Inati, Catherine Groden, Colleen Evans, Elise M O’Connell, Bernard Opar Toliva, Jane R Aceng, Josephine Aryek-Kwe, Camilo Toro, Constantine A Stratakis, A Gretchen Buckler, Cathy Cantilena, Tara N Palmore, Audrey Thurm, Eva H Baker, Richard Chang, Harper Fauni, David Adams, Ellen F Macnamara, C Christopher Lau, May Christine V Malicdan, Barbara Pusey-Swerdzewski, Robert Downing, Sudhir Bunga, Jerry D Thomas, William A Gahl, Avindra Nath
Publikováno v:
Brain : a journal of neurology, vol 146, iss 3
Brain
Brain
The aetiology of nodding syndrome remains unclear, and comprehensive genotyping and phenotyping data from patients remain sparse. Our objectives were to characterize the phenotype of patients with nodding syndrome, investigate potential contributors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c2b31bee70b188a05912935622d05d
https://doi.org/10.1093/brain/awac357
https://doi.org/10.1093/brain/awac357
Publikováno v:
International Journal of Intercultural Relations. 90:11-20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::903cd886398b118f04c83eed0d5ce825
https://doi.org/10.1016/j.ijintrel.2022.07.002
https://doi.org/10.1016/j.ijintrel.2022.07.002
Publikováno v:
Sensors; Volume 23; Issue 12; Pages: 5470
Recent advancements in 3D deep learning have led to significant progress in improving accuracy and reducing processing time, with applications spanning various domains such as medical imaging, robotics, and autonomous vehicle navigation for identifyi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::85bb517b9b251f687c07cda21b63c496