In Silico Analysis and Modeling of Novel Pathogenic Single Nucleotide Polymorphisms (SNPs) in Human CD40LG Gene

AH Abdelmoneim, MI Mustafa, TA Mahmoud… - bioRxiv, 2019 - biorxiv.org
Background: The X-linked hyper-immunoglobulin M syndrome (XHIGM) is a rare, inherited
immune deficiency disorder. It is more common in males. Characterized by elevated serum …

[HTML][HTML] analysis of gene revealing 11 novel SNPs with possible association to Hyperparathyroidism-Jaw Tumor syndrome

…, SH Hamza, SA Mirghani, TA Mahmoud… - The EuroBiotech … - sciendo.com
Hyperparathyroidism-Jaw Tumor (HPT-JT) is an autosomal dominant disorder with variable
expression, with an estimated prevalence of 6.7 per 1,000 population. Genetic testing for …

[PDF][PDF] In silico analysis of CDC73 gene revealing 11 novel SNPs with possible association to Hyperparathyroidism-Jaw Tumor syndrome

…, SH Hamza, SA Mirghani, TA Mahmoud… - 2020 - academia.edu
Hyperparathyroidism-Jaw Tumor (HPT-JT) is an autosomal dominant disorder with variable
expression, with an estimated prevalence of 6.7 per 1,000 population. Genetic testing for …

In silico analysis of CDC73 gene revealing 11 novel SNPs associated with Jaw Tumor Syndrome

…, SH Hamza, SA Mirghani, TA Mahmoud… - bioRxiv, 2019 - biorxiv.org
Back ground hyperparathyroidism-jaw tumor (HPT-JT) is an autosomal dominant disorder
with variable expression, with an estimated prevalence of 6.7 per 1,000 population. Genetic …

In silico analysis of IDH3A gene revealed Novel mutations associated with Retinitis Pigmentosa

TA Mahmoud, AH Abdelmoneim, NS Murshed… - bioRxiv, 2019 - biorxiv.org
Background Retinitis Pigmentosa (RP) refers to a group of inherited disorders characterized
by the death of photoreceptor cells leading to blindness. The aim of this study is to identify …

In Silico Genetics: Identification of pathogenic nsSNPs in human STAT3 gene associated with Job's syndrome

…, AH Abdelmoneim, NM Elfadol, TA Mahmoud… - bioRxiv, 2019 - biorxiv.org
Background Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job’s syndrome is a rare
immunodeficiesncy disease that classically presents in early childhood, characterized by …

Comprehensive bioinformatics analysis of L1CAM gene revealed Novel Pathological mutations associated with L1 syndrome

…, MI Mustafa, AH Abdelmoneim, TA Mahmoud… - bioRxiv, 2019 - biorxiv.org
Background Mutations in the human L1CAM gene cause a group of neurodevelopmental
disorders known as L1 syndrome (CRASH syndrome). The L1CAM gene provides instructions …

[BOOK][B] Syrian dust: Reporting from the heart of the war

F Borri - 2016 - books.google.com
… She should really be called Umm Mahmoud, the mother of Mahmoud, since Bashar, … we
have any definite information about is Thwaiba Kanafani. A fortyoneyearold architect with two …

[BOOK][B] I krigen: Et vitnesbyrd fra Syria

F Borri - 2014 - books.google.com
… Bortsett fra den ikke nærmere identifiserte Enkebrigaden, som later til å operere i nærheten
av Idlib, er den eneste kvinnen vi vet noe sikkert om Thwaiba Kanafani. Arkitekten, førtien år …