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View article: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability Open
Protein arginine methyltransferase 9 (PRMT9) is part of the PRMT family, and it is suspected to function in pathways relevant to neurodevelopment. It is thought to participate in alternative splicing through interactions with the splicing …
View article: Decoding Genomic Variants in a Turkish Cohort of Patients with Spasticity
Decoding Genomic Variants in a Turkish Cohort of Patients with Spasticity Open
View article: Multilocus Disease‐Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye
Multilocus Disease‐Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye Open
Multilocus genomic variations (MGVs), defined as pathogenic variants in two or more independent loci, are increasingly recognised in individuals with complex clinical phenotypes, particularly in highly consanguineous populations. Recent ad…
View article: Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature Open
Background Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and …
View article: Novel <i>RETREG1</i> (<scp><i>FAM134B)</i></scp> founder allele is linked to <scp>HSAN2B</scp> and renal disease in a Turkish family
Novel <i>RETREG1</i> (<span><i>FAM134B)</i></span> founder allele is linked to <span>HSAN2B</span> and renal disease in a Turkish family Open
Hereditary sensory and autonomic neuropathy type 2B (HSAN2B) is a rare autosomal recessive peripheral neuropathy caused by biallelic variants in RETREG1 (formerly FAM134B) . HSAN2B is characterized by sensory impairment resulting in skin u…
View article: Determination of miR-373 and miR-204 levels in neuronal exosomes in Alzheimer?s disease
Determination of miR-373 and miR-204 levels in neuronal exosomes in Alzheimer?s disease Open
The miR-204 and miR-373 expressions were significantly decreased in both patient groups compared to the control group. Therefore, we suggest that miR-204 and miR-373 are potential biomarkers for AD. However, due to the preliminary nature o…
View article: Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance
Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance Open
Imbalance ÖzMaternal 3. kromozomdaki perisentrik inversiyon nedeniyle ortaya çıkan, 3p26.3-3p26.1 bölgesinde 6.2 Mb boyutunda delesyon, 3q26.33-3q29bölgesinde ise 18.7 Mb boyutunda duplikasyona sahip rekombinant bir üçüncü kromozom taşıyan…