Ahmet Kablan
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View article: Clinical Consequences of Cancer-related RAS Signaling Pathway Beyond Malignancy
Clinical Consequences of Cancer-related RAS Signaling Pathway Beyond Malignancy 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: Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion
Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion Open
Mowat–Wilson syndrome (MWS) is a complex disorder caused by heterozygous ZEB2 gene variations creating haploinsufficiency. The main clinical features are evolving facial dysmorphism, intellectual disability, eye and brain malformations, an…
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: Reanalysis of genetic variants detected by next generation sequencing in Parkinson’s disease with two novel variants
Reanalysis of genetic variants detected by next generation sequencing in Parkinson’s disease with two novel variants Open
The authors have requested that this preprint be removed from Research Square.