Zehra Yigit-Manav
Aydin, Turkey
Last Updated: 09/26/2026
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Found 11 publications
A novel homozygous thyroglobulin gene variant presenting with massive congenital goiter and neonatal airway obstruction.
Journal: Hormones (Athens, Greece)
Published: January 05, 2026
CHAMP1-Related Neurodevelopmental Disorder: Two Turkish Cases with Novel Truncating Variants and Literature Review.
Journal: Molecular syndromology
Published: December 31, 2025
CHEK2 Germline Variants and Their Clinical Implications: Experience from a Turkish Hereditary Cancer Cohort.
Journal: Cancer investigation
Published: December 19, 2025
Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.
Journal: Balkan medical journal
Published: December 01, 2025
The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.
Journal: Journal of clinical research in pediatric endocrinology
Published: September 25, 2025
Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.
Journal: Journal of medical genetics
Published: September 10, 2025
Founder Pathogenic Variant in LMNA and Its Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
Journal: Journal of clinical research in pediatric endocrinology
Published: June 03, 2025
Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort
Journal: Journal of clinical research in pediatric endocrinology
Published: June 03, 2025
Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants.
Journal: International ophthalmology
Published: April 12, 2025
Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature.
Journal: Ophthalmic genetics
Published: March 31, 2025
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases.
Journal: Neurogenetics
Published: February 22, 2025
Showing 1-11 of 11
Last Updated: 09/26/2026