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The determinants of consanguineous marriages among the Arab population: a systematic review
K El Goundali, M Chebabe… - Iranian Journal of …, 2022 - pmc.ncbi.nlm.nih.gov
Background: Inbreeding continues to account for a significant proportion of marriages
among the Arab populations. Consanguinity is recognized in many studies as a significant …
among the Arab populations. Consanguinity is recognized in many studies as a significant …
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy
Post-transcriptional tRNA modifications are numerous and require a large set of highly
conserved enzymes in humans and other organisms. In yeast, the loss of many …
conserved enzymes in humans and other organisms. In yeast, the loss of many …
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
N Rumman, MR Fassad, C Driessens… - ERJ Open …, 2023 - publications.ersnet.org
Background Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in
Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the …
Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the …
Assessment of perceptions and predictors towards consanguinity: a cross-sectional study from Palestine
Background/Aim Consanguinity represents a biological relationship between two
individuals. In clinical genetics, it specifically refers to the marriage between individuals who …
individuals. In clinical genetics, it specifically refers to the marriage between individuals who …
Assessment of genetic familiarity and genetic knowledge among Palestinian university students
Background and aims Genetic knowledge and familiarity among the population represent
the lane toward effective participation in social decisions regarding genetic issues. This …
the lane toward effective participation in social decisions regarding genetic issues. This …
Mutations in TRAPPC12 manifest in progressive childhood encephalopathy and Golgi dysfunction
MP Milev, ME Grout, D Saint-Dic, YHH Cheng… - The American Journal of …, 2017 - cell.com
Progressive childhood encephalopathy is an etiologically heterogeneous condition
characterized by progressive central nervous system dysfunction in association with a broad …
characterized by progressive central nervous system dysfunction in association with a broad …
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
S Edvardson, Y Murakami, TTM Nguyen… - Journal of medical …, 2017 - jmg.bmj.com
Background Of our 1400 exome-studied patients, 67% originate from consanguineous
families.∼ 80% suffer from variable degree of intellectual disability (ID). The search for …
families.∼ 80% suffer from variable degree of intellectual disability (ID). The search for …
Hematological and biochemical evaluation of β-thalassemia major (βTM) patients in Gaza Strip: A cross-sectional study
H Ayyash, M Sirdah - International journal of health sciences, 2018 - pmc.ncbi.nlm.nih.gov
Objectives In Gaza Strip, Palestine, β-thalassemia is a major public health problem where
more than 300 β-thalassemia major (βTM) patients are currently being managed at …
more than 300 β-thalassemia major (βTM) patients are currently being managed at …
'No one should be terrified like I was!'Exploring drivers and impacts of child marriage in protracted crises among Palestinian and Syrian refugees
Exacerbated by 9 years of conflict and displacement, child marriage among Syrian refugees
appears to be increasing, while in Gaza, the noticeable reduction in child brides over the …
appears to be increasing, while in Gaza, the noticeable reduction in child brides over the …
Genetic analysis of osteogenesis imperfecta in the P alestinian population: molecular screening of 49 affected families
O Essawi, S Symoens, M Fannana… - Molecular genetics & …, 2018 - Wiley Online Library
Background Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue
disorder clinically hallmarked by increased susceptibility to bone fractures. Methods We …
disorder clinically hallmarked by increased susceptibility to bone fractures. Methods We …