Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mohammed Nasser Al Kindi"'
Autor:
Mohammed Nasser Al-Kindi, Mazin Jawad Al-Khabouri, Khalsa Ahmad Al-Lamki, Flavia Palombo, Tommaso Pippucci, Giovanni Romeo, Nadia Mohammed Al-Wardy
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 18, Iss 1, Pp 1-12 (2020)
Abstract Background Hereditary hearing loss is a heterogeneous group of complex disorders with an overall incidence of one in every 500 newborns presented as syndromic and non-syndromic forms. Cadherin-related 23 (CDH23) is one of the listed deafness
Externí odkaz:
https://doaj.org/article/c817bc16acde42fa9e0408016a288fb0
Autor:
Giulia Severi, Francesco Pisani, Duccio Maria Cordelli, Nayereh Nouri, Mohammed Nasser Al Kindi, Alfredo Brusco, Flavia Palombo, Caterina Marconi, Pamela Magini, Tommaso Pippucci, Claudio Graziano, Nadia Al Wardy, Gaetano Cantalupo, Mansoor Salehi, Giovanni Romeo, Elisa Giorgio, Mazin Al Khabouri, Simone Gangarossa, Marco Seri, Valerio Carelli, Chiara La Morgia
Autozygosity-driven exome analysis has been shown effective for identification of genes underlying recessive diseases especially in countries of the so-called Greater Middle East (GME), where high consanguinity unravels the phenotypic effects of rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d93c669a8cc90cf54ea41bbc683c0e7
https://hdl.handle.net/11573/1669610
https://hdl.handle.net/11573/1669610
Autor:
Guido Alberto Gnecchi Ruscone, Mohammed Nasser Al Kindi, Marco Seri, Tania Giangregorio, Andrea Angius, Tommaso Pippucci, Paolo Gasparini, Manuela Oppo, Giorgia Girotto, Marco Sazzini, Flavia Palombo, Nadia Al-Wardy, Mazin Al Khabori, Khalsa Al Lamki, Matteo Benelli, Francesco Cucca, Alberto Magi, Giovanni Romeo
Publikováno v:
Journal of human genetics. 62(2)
The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20b582487166c73b78058776bd9fbf9
https://pubmed.ncbi.nlm.nih.gov/27734841
https://pubmed.ncbi.nlm.nih.gov/27734841