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Prevalence of antibiotic resistance among Acinetobacter baumannii isolates from Aleppo, Syria.
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Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis
TLDR
The first Arab case of ECHS1 Deficiency is reported, and in-silico analysis suggests that the residue affected by this mutation may be involved in an important functional or structural role.
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A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
TLDR
A case of a novel homozygous splice site mutation in the ECEL1 gene in a child with a phenotype consistent with distal arthrogryposis type 5D, born to consanguineous Emirati parents heterozygous for the novel ECel1 mutation.
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Catechol-O-methyltransferase Val 108/158 Met polymorphism and breast cancer risk: a case control study in Syria
TLDR
The data suggest that there may be no overall association between the COMT genotype and breast cancer, and the functional genetic Val158Met polymorphism in theCOMT gene and female breast cancer risk is unknown.
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Novel splice‐site mutation in WDR62 revealed by whole‐exome sequencing in a Sudanese family with primary microcephaly
TLDR
A novel WDR62 variant is uncovered from two Sudanese siblings whose parents are first cousins who suffered MCPH2 with incomplete lissencephaly and developmental delay, and probably leads to aberrant splicing, which may result in a truncated protein lacking all functional domains.
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Resistance trends and risk factors of extended spectrum β-lactamases in Escherichia coli infections in Aleppo, Syria.
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Multidrug resistance in Pseudomonas aeruginosa isolated from nosocomial respiratory and urinary infections in Aleppo, Syria.
INTRODUCTION Pseudomonas aeruginosa represents a serious clinical challenge due to its frequent involvement in nosocomial infections and its tendency towards multidrug resistance. METHODOLOGY This…
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Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
TLDR
Comparing the clinical picture of the herewith-reported individual with previously reported cases of MRD21, there seems to be many common symptoms, and few new ones that were not observed before, which helps to further define this rare condition and its molecular underpinnings.
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A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
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Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa
TLDR
The first known case of a pathological variant in the PDE6A gene from the Arabian Peninsula is described, caused by a novel mutation in PDE 6A, which completely removed the catalytic PDEase domain in the protein.
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