Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ibis, Menendez"'
Autor:
Oscar Diaz-Horta, Duygu Duman, Joseph Foster, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H. Ulloa, Yvonne J. K. Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin
Publikováno v:
PLoS ONE, Vol 8, Iss 5 (2013)
Externí odkaz:
https://doaj.org/article/128d5d95a0694c1186ea7514bac339b7
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e82810 (2013)
Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here w
Externí odkaz:
https://doaj.org/article/984451e954aa47689ed9ffc2f32b68c4
Autor:
Oscar Diaz-Horta, Duygu Duman, Joseph Foster, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H Ulloa, Yvonne J K Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e50628 (2012)
Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL
Externí odkaz:
https://doaj.org/article/ce2ef432b8ae4255841a4ebc784abcdd
Autor:
Gabrielle N, Manzoli, Guney, Bademci, Angelina X, Acosta, Têmis M, Félix, F Basak, Cengiz, Joseph, Foster, Danniel S Dias, Da Silva, Ibis, Menendez, Isalis, Sanchez-Pena, Demet, Tekin, Susan H, Blanton, Kiyoko, Abe-Sandes, Xue Zhong, Liu, Mustafa, Tekin
Publikováno v:
Annals of human genetics. 80(6)
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deaf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66a46925bf866f13d2d3f8adc9f01a90
https://pubmed.ncbi.nlm.nih.gov/27870113
https://pubmed.ncbi.nlm.nih.gov/27870113