Search Results - "Alerasool, Masoome"
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Identification of a novel mutation of Platelet-Derived Growth Factor-C (PDGFC) gene in a girl with Non-Syndromic cleft lip and palate
Published in Gene (05-06-2024)“…•1. This study unveils a previously unreported frameshift mutation (c.546dupA, p.L183fs) in the Platelet-Derived Growth Factor-C (PDGFC) gene, shedding light…”
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Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis
Published in Clinical genetics (01-12-2024)“…Hearing loss is one of the most prevalent genetic disorders in humans. Locus and allelic heterogeneity cause fundamental challenges in hearing loss genetic…”
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Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A
Published in Biochemical genetics (26-02-2024)“…Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy disorder characterized by a broad spectrum of clinical symptoms such as retinal dystrophy, obesity,…”
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Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene
Published in Curēus (Palo Alto, CA) (12-07-2021)“…Fragile X syndrome (FXS) has been reported as the leading cause of mental retardation (MR) that predominantly involves males compared to females. An…”
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An in silico chimeric multi subunit vaccine targeting virulence factors of enterotoxigenic Escherichia coli (ETEC) with its bacterial inbuilt adjuvant
Published in Journal of microbiological methods (01-07-2012)“…Enteric infections resulting in diarrheal diseases remain as major global health problems. Among bacteria, enterotoxigenic Escherichia coli (ETEC) causes the…”
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Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene
Published in Cureus (01-07-2021)Get full text
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