Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Raymond, Caylor"'
Autor:
Xuemei Shi, Robin Fletcher, Jiyong Wang, Machenzie Lally, Sydney Posey, Michael Friez, Jennifer Lee, Raymond Caylor, Fatima Abidi
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101507- (2024)
Externí odkaz:
https://doaj.org/article/9b46558d133c43f784dbc3dd6b6b0b66
Autor:
Matthew Tedder, Jessica Cooley Coleman, Anna Childers, Jennifer Kerkhof, Raymond Louie, Jennifer Lee, Michael Friez, Bekim Sadikovic, David Everman, Richard Rogers, Raymond Caylor
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100616- (2023)
Externí odkaz:
https://doaj.org/article/41b97a149c514fe2b6bf26e1a7c09949
Autor:
Jiyong Wang, Raymond Caylor, Julie Jones, Jennifer Lee, Raymond Louie, Benjamin Hilton, Barbara DuPont, Kameryn Butler
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100629- (2023)
Externí odkaz:
https://doaj.org/article/e482975efe144c5e90b09308d06da84f
Autor:
Tiffany Baker, Raymond Caylor, Jiyong Wang, Matthew Kilpatrick, Nicholas Batalis, Daynna Wolff, Cynthia Welsh
Publikováno v:
Journal of neuropathology and experimental neurology. 81(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ce70a1efc25077eb41cf323cf2ac57
https://pubmed.ncbi.nlm.nih.gov/36063408
https://pubmed.ncbi.nlm.nih.gov/36063408
Autor:
Tonya, Moss, Melanie, May, Heather, Flanagan-Steet, Raymond, Caylor, Yong-Hui, Jiang, Marie, McDonald, Michael, Friez, Allyn, McConkie-Rosell, Richard, Steet
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Variants in the X-linked gene AIFM1 (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impairment. AIF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e0fe0c715eb0d52771060670f78e6a18
https://pubmed.ncbi.nlm.nih.gov/34117073
https://pubmed.ncbi.nlm.nih.gov/34117073
Autor:
Raymond Caylor, Timothy Fee, Andrew Lay, Cindy Skinner, David Everman, Elizabeth Blue, Michael Bamshad, Charles Schwartz, Michael Friez, Roger Stevenson
Publikováno v:
Genetics in Medicine. 24:S204
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01ca3e8988e749887b62600a5f89751c
https://doi.org/10.1016/j.gim.2022.01.361
https://doi.org/10.1016/j.gim.2022.01.361
Autor:
Xuemei Shi, Fatima Abidi, Michael J. Friez, Jessica A Cooley Coleman, Julie R. Jones, Raymond J. Louie, Raymond Caylor, Jennifer C. Lee, Kameryn Butler
Publikováno v:
Molecular Genetics and Metabolism. 132:S277-S278
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29eb5cae4fba15c02032462de6cc8263
https://doi.org/10.1016/s1096-7192(21)00510-2
https://doi.org/10.1016/s1096-7192(21)00510-2
Autor:
Allyn McConkie-Rosell, Marie T. McDonald, Raymond Caylor, Tonya Moss, Richard Steet, Melanie May, Michael J. Friez, Heather Flanagan-Steet, Yong-Hui Jiang
Publikováno v:
Molecular Case Studies. 7:a006081
Variants in the X-linked gene AIFM1 (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impairment. AIF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd2284232b8b491f37d76acb5571d4c9
https://doi.org/10.1101/mcs.a006081
https://doi.org/10.1101/mcs.a006081
Autor:
Xiaolan Fang, Kameryn Butler, Richard H. Haas, Tim A. Benke, Arthur A. Beisang, Timothy Feyma, David N. Lieberman, Michael J. Friez, Mary Jones, Alan K. Percy, Peter Heydemann, Shannon M. Standridge, Fatima Abidi, Raymond Caylor, Robin C. C. Ryther, Steven A. Skinner, Eric D. Marsh, Jeffrey L. Neul, Jennifer M. Gass
Publikováno v:
Molecular Genetics and Metabolism. 132:S239
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e608fc0ae9e616ada23fc664ef599b7
https://doi.org/10.1016/s1096-7192(21)00454-6
https://doi.org/10.1016/s1096-7192(21)00454-6
Autor:
Raymond Caylor, Carol J Saunders, Isabelle Thiffault, Kimberly A. Horii, Emily Fleming, Amy J. Nopper, Shivarajan M. Amudhavalli, Mohammed Ilyas, Holly I Welsh, Lauren Grote, Janda L Jenkins, Ahmed Abdelmoity, Emily G. Farrow, Sarah E Soden, Laurel K. Willig, Kendra Engleman
Publikováno v:
Neurogenetics. 19(3)
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems including the brain, skin, heart, eyes, kidneys, and lungs. The phenotype is highly variable, altho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ca04fa81a78e636f8d427cbebb827ab
https://pubmed.ncbi.nlm.nih.gov/29992365
https://pubmed.ncbi.nlm.nih.gov/29992365