Zobrazeno 1 - 4
of 4
pro vyhledávání: '"E M Jenkinson"'
Autor:
E M, Jenkinson, J H, Livingston, M C, O'Driscoll, I, Desguerre, R, Nabbout, N, Boddaert, G, Soares, M, Gonçalves da Rocha, S, D'Arrigo, G I, Rice, Y J, Crow
Publikováno v:
Clinical genetics. 93(2)
Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll et al reported mutations in OCLN to cause band-like ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da0da94ede061d790fa5a5cc1447ecaf
https://pubmed.ncbi.nlm.nih.gov/28386946
https://pubmed.ncbi.nlm.nih.gov/28386946
Autor:
L A M, Demain, J E, Urquhart, J, O'Sullivan, S G, Williams, S S, Bhaskar, E M, Jenkinson, C M, Lourenco, A, Heiberg, S H, Pearce, S A, Shalev, W W, Yue, S, Mackinnon, K J, Munro, R, Newbury-Ecob, K, Becker, M J, Kim, R T, O' Keefe, W G, Newman
Publikováno v:
Clinical genetics. 91(2)
Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) in both sexes and primary ovarian insufficiency in 46, XX karyotype females. Biallelic variants in five genes are reported to be causative: HS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ad402efa8262852d761a3b3d6e381a47
https://pubmed.ncbi.nlm.nih.gov/26970254
https://pubmed.ncbi.nlm.nih.gov/26970254
Publikováno v:
Academic Medicine. 54:817-9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0ad4b23ad3f7a2663de53dd5deea44c
https://doi.org/10.1097/00001888-197910000-00011
https://doi.org/10.1097/00001888-197910000-00011
Autor:
E. M Jenkinson
Publikováno v:
Notes and Queries. 6:237-237
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::974729a321b9316b68232726ef5a4f58
https://doi.org/10.1093/nq/6.6.237
https://doi.org/10.1093/nq/6.6.237