Zobrazeno 1 - 10
of 175
pro vyhledávání: '"Joseph Farris"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101051- (2024)
Externí odkaz:
https://doaj.org/article/6b1e632bba9943cf8b05579ca770b90b
Autor:
Stephanie Safgren, Sarah Thurman, Joseph Farris, Michael Zimmermann, Raul Urrutia, Eric Klee, Myra Wick
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101209- (2024)
Externí odkaz:
https://doaj.org/article/7bc0a5b2b8ea4fb696d8951ab7b12e97
Autor:
Laura Rust, Paige Hazelton, Joseph Farris, Matheus Wilke, Eric Klee, Whitney Thompson, Sarah Thurman, Lisa Schimmenti, Brendan Lanpher
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101305- (2024)
Externí odkaz:
https://doaj.org/article/a7d31b019bb94b6199c21f4ba538c188
Autor:
Joseph Farris, Gavin Oliver, Garrett Jenkinson, Andrew Osbourne, Sarah Kroc, Teresa Kruisselbrink, Ralitza Gavrilova, Michael Stephens, Eric Klee
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100716- (2023)
Externí odkaz:
https://doaj.org/article/c6c127f1ba9a49bebb347ae464d5a38b
Publikováno v:
PLoS Genetics, Vol 17, Iss 2, p e1009307 (2021)
Hundreds of mutations in a single gene result in rare diseases, but why mutations induce severe or attenuated states remains poorly understood. Defect in glycine decarboxylase (GLDC) causes Non-ketotic Hyperglycinemia (NKH), a neurological disease as
Externí odkaz:
https://doaj.org/article/1a107e3d59df4599b5dcc168e3e941b1
Autor:
Joseph Farris
In his illustrious career as a cartoonist for the New Yorker and other publications, Joseph Farris has created dozens of hilarious cartoons about the best game in the world at which to be bad.”A.A. Milne had it right, and Farris's cartoons get to
Publikováno v:
PLoS Computational Biology, Vol 16, Iss 5, p e1007871 (2020)
Monogenetic diseases provide unique opportunity for studying complex, clinical states that underlie neurological severity. Loss of glycine decarboxylase (GLDC) can severely impact neurological development as seen in non-ketotic hyperglycinemia (NKH).
Externí odkaz:
https://doaj.org/article/cf9cd6e43583450cb1d07767c0261897
Autor:
Laura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, Joseph Farris, Elsebet Østergaard, Konstantinos Tsiakas, Maja Hempel, Cecile Aquaviva-Bourdain, Stefanos Koutsoukos, Nicholas V Stence, Martina Magistrati, Elaine B Spector, Kathryn Kronquist, Mette Christensen, Helena G Karstensen, René G Feichtinger, Melanie T Achleitner, J Lawrence Merritt II, Belén Pérez, Magdalena Ugarte, Stephanie Grünewald, Anthony R Riela, Natalia Julve, Jean-Baptiste Arnoux, Kasturi Haldar, Claudia Donnini, René Santer, Allan M Lund, Johannes A Mayr, Pilar Rodriguez-Pombo, Johan L K Van Hove
Publikováno v:
Human molecular genetics.
Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43d5241355ccacf3cf24c2450c5b71c
https://pubmed.ncbi.nlm.nih.gov/36190515
https://pubmed.ncbi.nlm.nih.gov/36190515