Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Abdullah Fahd Al Mutery"'
Autor:
Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
Publikováno v:
PLoS ONE, Vol 12, Iss 9, p e0185281 (2017)
Autosomal recessive non-syndromic hearing loss is one of the most common monogenic diseases. It is characterized by high allelic and locus heterogeneities that make a precise diagnosis difficult. In this study, whole-exome sequencing was performed fo
Externí odkaz:
https://doaj.org/article/0a9bb1eebf2346cd97f6ba2bc5f60343
Autor:
Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
In order to determine the consequence of ILDR1 reported mutations on splicing and translation initiation, we used Human Splicing Finder (version 3.0) (http://www.umd.be/HSF3/) and ORF finder (http://www.geneinfinity.org/sms/sms_orffinder.html) respec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f49c5778c39b8adc085ee7ba3f7dd53
https://doi.org/10.17504/protocols.io.jhxcj7n
https://doi.org/10.17504/protocols.io.jhxcj7n
Autor:
Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed and Khalid Bajou
Sequencing library construction, exome capture, sequencing, and standard data analyses for the affected children in this family was performed bySengenics. Exome capturing and enrichment was carried out using SureSelect All ExonV5kit (Agilent Technolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60b5ab6ce77979c6f8504b802c2abc8a
https://doi.org/10.17504/protocols.io.jhscj6e
https://doi.org/10.17504/protocols.io.jhscj6e
Autor:
Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
The novel c.804delG mutation, occurring in the seventh exon of the ILDR1 gene, abolishes a FauI restriction site. The FauI restriction pattern of the exon7 fragment (1003 bp) was used to screen 50 deaf individuals and 120 unrelated healthy UAE indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68259108eafc84a12be1278bbde03d0b
https://doi.org/10.17504/protocols.io.jhwcj7e
https://doi.org/10.17504/protocols.io.jhwcj7e
Autor:
Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
Sanger sequencing was performed on available samples from all affected family members to determine whether the potential mutation in the causative gene co-segregated with the disease phenotype. In order to amplify exon 7 of the ILDR1 gene, we designe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d6064aef9d4d00fd52743b9300da712
https://doi.org/10.17504/protocols.io.jhvcj66
https://doi.org/10.17504/protocols.io.jhvcj66