Browsing by Author "Kanaan, Moein"

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Identification of a Novel deletion Mutation in AGPAT2 Gene Associated with Congenital Generalized LiPodystrophy Type 1

Salama, Ibrahim (Palestine Polytehnic University & Bethlehem University, 8/1/2016)

Background: Congenital generalized lipodystrophy (CGL) also known as BerardinelliSeip Congenital Lipodystrophy (BSCL) is rare autosomal recessive disorder caused by mutation in AGPAT2, BSCL2, CAV1, and PTRF genes characterized ...
A novel Splice Site Mutation in ADGVR1 Detected in Palestinian Family with Hearing Loss by Next Generation Sequencing

Tomizy, Fida (Palestine Polytehnic University & Bethlehem University, 4/1/2016)

Background: hereditary deafness is a genetically heterogeneous trait. To date, 60 genes that have been identified that cause nonsyndromic hearing loss. The extreme genetic heterogeneity of deafness makes the ability to ...
SNaPshot Multiplex Assay for Rapid Detection of Mutations Associated with Hereditary Hearing Loss in Palestine

Jaraysa, Tamara Saber (Palestine Polytechnic University & Bethlehem University, 4/1/2016)

Background: Hearing loss is the most common sensory disorder affecting a high rate of newborns especially in Palestine. Hearing loss incidence increases with the high rate of consanguinity observed in the Palestinian ...

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