Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sana' Al Hait"'
Autor:
Konstantinos Aliferis, David Neil Cooper, Stefania Gimelli, E. Kanavakis, Lorraine Gwanmesia, Sofia Kitsiou-Tzeli, Abdelaziz Sefiani, Frédérique Béna, Habiba Chaabouni Bouhamed, Helen Fryssira, Samia A. Temtamy, Stavroula Psoni, Nasir A. S. Al-Allawi, Hanan Hamamy, Georgios Stamoulis, Nadine Jalkh, André Mégarbané, Ebtesam M. Abdalla, Stylianos E. Antonarakis, Mari Nelis, Siham Chafai Elalaoui, Periklis Makrythanasis, Amira Masri, Siv Fokstuen, Lihadh Al-Gazali, Sana' Al Hait, Mariana Bustamante Eduardo, Michel Guipponi, Anne Vannier, Armand Bottani, Maha S. Zaki, Fatma Al-Jasmi, Federico Santoni, Mona Aglan, Elisavet Stathaki
Publikováno v:
Human Mutation, Vol. 35, No 10 (2014) pp. 1203-10
HUMAN MUTATION
HUMAN MUTATION
Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a diagnosis in many cases. We employed exome sequencing to identify
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6dc06e32afdde6c2e01a74f3d03145
https://archive-ouverte.unige.ch/unige:42302
https://archive-ouverte.unige.ch/unige:42302
Publikováno v:
Community genetics. 10(1)
The population in Jordan mounted from half a million in 1952 to 5.3 millions in 2004 and is composed of a variety of ethnic groups, the majority being Arabs. Couples nowadays tend to have fewer children, with the total fertility rate falling from 7.4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29525821dd560f9b17eaddb970e06ef9
https://pubmed.ncbi.nlm.nih.gov/17167252
https://pubmed.ncbi.nlm.nih.gov/17167252
