Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jessie, Cameron"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100923- (2024)
Externí odkaz:
https://doaj.org/article/d758c592ca3a44dfa73792b58039397a
Autor:
Youjin Oh, Grace Yoon, Michael Maier, Bruno Reversade, Jessie Cameron, Susan Blaser, Cynthia Hawkins
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101168- (2024)
Externí odkaz:
https://doaj.org/article/0c3457b103b34492827f462dbb0b1338
Autor:
Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy, James J. Dowling.
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100182- (2023)
Summary: Phosphoenolpyruvate carboxykinase (PCK) plays a critical role in cytosolic gluconeogenesis, and defects in PCK1 cause a fasting-aggravated metabolic disease with hypoglycemia and lactic acidosis. However, there are two genes encoding PCK, an
Externí odkaz:
https://doaj.org/article/b48a1204d96b4004b09525521b40b74b
Autor:
Anastasia Minenkova, Erwin E W Jansen, Jessie Cameron, Rob Barto, Thomas Hurd, Lauren MacNeil, Gajja S Salomons, Saadet Mercimek-Andrews
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0257073 (2021)
BackgroundPyridoxine-dependent epilepsy (PDE) is due to biallelic variants in ALDH7A1 (PDE-ALDH7A1). ALDH7A1 encodes α-aminoadipic semialdehyde dehydrogenase in lysine catabolism. We investigated the gamma aminobutyric acid (GABA) metabolism and ene
Externí odkaz:
https://doaj.org/article/586ceeb39b9b4ac08b68ef24aa0c5fdd
Autor:
Charlotte V. Y. Knowles, Anil Kanthi, Carolyn Tysoe, Georgia Spentzou, Claire L. S. Turner, Jan A Till, Liza K. Phillips, Anne Moreau de Bellaing, Diptendu Chatterjee, Alexandre Janin, Paul French, Tamara T. Koopmann, Anju Shukla, Melanie T. Achleitner, Loïc de Pontual, Matthew S. Edwards, Deborah J. Morris-Rosendahl, Noha Elserafy, Kirti Mittal, Jessie Cameron, Wendy K. Chung, Saskia B. Wortmann, Sajel L Kana, Kit Doudney, Robert G. Weintraub, Peter M George, Priyanka Ahimaz, Kyla Dunn, Ona Faye-Petersen, Katta M. Girisha, Hannah L. Kennedy, Kate S Lichkus, Alexa Kidd, Sumith Parikh, Jason D. Merker, Megan E. Grove, Ruth McGowan, Laura Brett, Anna C.E. Hurst, Jeanne Amiel, Bindu Parayil Sankaran, Dianna G. Fisk, Clémantine Dimartino, Charlotte L. Alston, Michelle L. Thompson, Johannes A. Mayr, Tessa Homfray, Alan Ma, Robert McFarland, Muhammad A Rafiq, Anne Guimier, Robert M Hamilton, Christian Turner, Karen McLeod, Christopher T. Gordon, Robert W. Taylor, David R. Thorburn, Florence van den Broek, Carolyn Ellaway, Fanny Bajolle
Publikováno v:
Genetics in Medicine, 23, 2415-2425
Genetics in Medicine, 23(12), 2415-2425. SPRINGERNATURE
Genetics in Medicine, 23, 12, pp. 2415-2425
Genetics in Medicine
Genetics in Medicine, 23(12), 2415-2425. SPRINGERNATURE
Genetics in Medicine, 23, 12, pp. 2415-2425
Genetics in Medicine
Purpose Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b33a647ce6ed7623f3dcf7ef17e6291
https://hdl.handle.net/1887/3250866
https://hdl.handle.net/1887/3250866
Autor:
Jessie Cameron, Ingrid Tein
Publikováno v:
Journal of Inherited Metabolic Disease. 45:126-126
Autor:
Karen, Vernau, Eleonora, Napoli, Sarah, Wong, Catherine, Ross-Inta, Jessie, Cameron, Danika, Bannasch, Andrew, Bollen, Peter, Dickinson, Cecilia, Giulivi
Publikováno v:
Brain pathology (Zurich, Switzerland). 25(4)
Alaskan Husky encephalopathy (AHE(1) ) is a fatal brain disease associated with a mutation in SLC19A3.1 (c.624insTTGC, c.625CA). This gene encodes for a thiamine transporter 2 with a predominately (CNS) central nervous system distribution. Considerin
Publikováno v:
The FASEB Journal. 28
Autor:
Birner, Jessie Cameron.
Thesis (M.S.)--University of Wisconsin--Madison, 1928.
Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaf 41).
Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaf 41).
Externí odkaz:
http://catalog.hathitrust.org/api/volumes/oclc/54674813.html