Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jose Ronaldo Lima de Carvalho Jr."'
Autor:
Masha Kolesnikova, Jose Ronaldo Lima de Carvalho Jr., Rait Parmann, Angela H. Kim, Vinit B. Mahajan, Stephen H. Tsang, Janet R. Sparrow
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract Introduction Leber congenital amaurosis (LCA) type 2, due to disease‐causing variants in RPE65, is characterized by severe visual loss in early infancy. Current treatments include voretigene neparvovec‐rzyl (VN) for RPE65‐associated LC
Externí odkaz:
https://doaj.org/article/01889da9e93d413c8c49643b3efd6c2b
Autor:
Ahra Cho, Sara D. Ragi, Jin Kyun Oh, Jose Ronaldo Lima de Carvalho Jr, Joseph Ryu, Ber‐Yuh Yang, Stephen H. Tsang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background The C677T variant of the MTHFR (5,10‐Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboe
Externí odkaz:
https://doaj.org/article/c1fad0a229f6415d845d0405c248d0c5
Autor:
Eduardo Sousa de Melo, Anderson Rodrigues Brandão de Paiva, Antônio Duarte de Amorim Jr, Jose Ronaldo Lima de Carvalho Jr, Marcos Eugenio Ramalho Bezerra, Vanessa van der Linden, David S. Lynch, Fernando Kok
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 37(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c52f419c688cf3e66d3b91c0559e5f3
https://pubmed.ncbi.nlm.nih.gov/35142387
https://pubmed.ncbi.nlm.nih.gov/35142387