Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Eyby Leon"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101143- (2024)
Externí odkaz:
https://doaj.org/article/fbe8bf92d1d647c1bcfbf24e065fab3f
Autor:
Eyby Leon
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101267- (2024)
Externí odkaz:
https://doaj.org/article/4b84eb60ae634fa7a05c41390229fbe3
Autor:
Eyby Leon, Veronica Gomez-Lobo, Kim Shimy, Maureen Monaghan, Eric Vilain, Daniel Casella, Emmanuele Delot
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100255- (2023)
Externí odkaz:
https://doaj.org/article/e86e4f9a495e4b608aefaee9f284104c
Autor:
Udeme D, Ekong, Sahithi, Reddy, Nada, Yazigi, Khalid, Khan, Stuart, Kaufman, Kimberly A, Chapman, Eyby, Leon, Nicholas Ah, Mew, Debra, Regier, Erin, MacLeod, Alexander, Kroemer, Raffaelle, Girlanda, Jason, Hawksworth, Cal S, Matsumoto, Thomas M, Fishbein
Publikováno v:
Liver Transplantation. 28:1947-1950
Autor:
Charles J. Billington, Kimberly A. Chapman, Eyby Leon, Beatrix W. Meltzer, Seth I. Berger, Matthew Olson, Robert A. Figler, Steve A. Hoang, Cui Wanxing, Brian R. Wamhoff, M. Sol Collado, Kristina Cusmano‐Ozog
Publikováno v:
American Journal of Medical Genetics Part A. 188:2738-2749
Publikováno v:
Am J Med Genet A
Aldehyde Dehydrogenase 1, Family Member A2 (ALDH1A2) is essential for the synthesis of retinoic acid from vitamin A. Studies in model organisms demonstrate a critical role for ALDH1A2 in embryonic development, yet few pathogenic variants are linked t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d60363d5d4bf01b69c67274652fd144
https://europepmc.org/articles/PMC9805811/
https://europepmc.org/articles/PMC9805811/
Publikováno v:
Molecular Genetics and Metabolism. 138:107444
Autor:
Natasha Shur, Andrea J. Cohen, Tamanna R. Roshan Lal, Erin MacLeod, Eyby Leon, Danielle Starin, Debra S Regier
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
In an era of increasing technology and interaction with the patient bedside, we explore the role of relocating the bedside from the hospital to the home using telemedicine. The COVID-19 pandemic pushed telemedicine from small and pilot programs to wi
Publikováno v:
American Journal of Medical Genetics Part A. 182:425-430
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the GMPPA gene were described in association with one such CDG known as alacrima,
Publikováno v:
American Journal of Medical Genetics Part A. 182:584-590
The transcription factor for immunoglobulin heavy-chain enhancer 3 (TFE3) gene encodes a transcription factor that regulates embryonic stem cell (ESC) differentiation. Its phosphorylation by the lysosomal Rag GTPase signaling pathway leads to cytopla