Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

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Serval ID
serval:BIB_D078D41DBD88
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Journal
Hum Mutat
Author(s)
Makrythanasis P., Nelis M., Santoni F. A., Guipponi M., Vannier A., Bena F., Gimelli S., Stathaki E., Temtamy S., Megarbane A., Masri A., Aglan M. S., Zaki M. S., Bottani A., Fokstuen S., Gwanmesia L., Aliferis K., Bustamante Eduardo M., Stamoulis G., Psoni S., Kitsiou-Tzeli S., Fryssira H., Kanavakis E., Al-Allawi N., Sefiani A., Al Hait S., Elalaoui S. C., Jalkh N., Al-Gazali L., Al-Jasmi F., Bouhamed H. C., Abdalla E., Cooper D. N., Hamamy H., Antonarakis S. E.
ISSN
1098-1004 (Electronic)
ISSN-L
1059-7794
Publication state
Published
Issued date
2014
Language
english
OAI-PMH
oai:serval.unil.ch:BIB_D078D41DBD88
DOI
10.1002/humu.22617
Pubmed
25044680
Create date
20/05/2019 13:40
Last modification date
14/12/2019 7:26
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