Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Samira Jambi"'
Autor:
Nasser A. Elhawary, Essam H. Jiffri, Samira Jambi, Ahmad H. Mufti, Anas Dannoun, Hassan Kordi, Asim Khogeer, Osama H. Jiffri, Abdelrahman N. Elhawary, Mohammed T. Tayeb
Publikováno v:
Human Genomics, Vol 12, Iss 1, Pp 1-11 (2018)
Abstract Background In individuals with Duchenne muscular dystrophy (DMD), exon skipping treatment to restore a wild-type phenotype or correct the frame shift of the mRNA transcript of the dystrophin (DMD) gene are mutation-specific. To explore the m
Externí odkaz:
https://doaj.org/article/a0ad8400a7a945fd9970a2e02136f578
Autor:
Samira Jambi, Anas Dannoun, Essam H. Jiffri, Nasser A. Elhawary, Hassan Kordi, Asim Khogeer, Ahmad H. Mufti, Osama H. Jiffri, Mohammed T. Tayeb, Abdelrahman N. Elhawary
Publikováno v:
Human Genomics, Vol 12, Iss 1, Pp 1-11 (2018)
Human Genomics
Human Genomics
Background In individuals with Duchenne muscular dystrophy (DMD), exon skipping treatment to restore a wild-type phenotype or correct the frame shift of the mRNA transcript of the dystrophin (DMD) gene are mutation-specific. To explore the molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37b1bcdded8362a0e9efb6600ee9a919
http://link.springer.com/article/10.1186/s40246-018-0152-8
http://link.springer.com/article/10.1186/s40246-018-0152-8
Autor:
Sayoko Nishimura, Kaya Bilguvar, A. Gulhan Ercan-Sencicek, Matthew W. State, Paul El-Fishawy, Stephen Sanders, Nenad Sestan, Elena L. Grigorenko, Murat Gunel, Thomas M. Morgan, Abha R. Gupta, Arthur S. Alberts, Marina R. Picciotto, Shrikant Mane, Mohnish Suri, Zafer Yüksel, Samira Jambi, Mingfeng Li, Daniel Franjic, Michele H. Johnson
Publikováno v:
European Journal of Human Genetics. 23:165-172
The combination of family-based linkage analysis with high-throughput sequencing is a powerful approach to identifying rare genetic variants that contribute to genetically heterogeneous syndromes. Using parametric multipoint linkage analysis and whol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e4a79af172d2d1a8f97cf131a605de
https://doi.org/10.1038/ejhg.2014.82
https://doi.org/10.1038/ejhg.2014.82