Publication
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Periklis Makrythanasis, Mari Nelis, Federico A. Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia Temtamy, André Mégarbané, Amira Masri, Mona S. Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou-Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al-Allawi, Abdelaziz Sefiani, Sana' Al Hait, Siham C. Elalaoui, Nadine Jalkh, Lihadh Al-Gazali, Fatma Al-Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, David N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis
Human Mutation, August 2014, Wiley
DOI: 10.1002/humu.22617