Hulya Kayserili

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 184 publications

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Journal: Clinical genetics

Published: April 15, 2026

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Journal: Journal of medical genetics

Published: April 03, 2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Journal: Clinical genetics

Published: February 05, 2026

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.

Journal: Clinical genetics

Published: September 11, 2025

Cascade counselling and testing. Recommendations of the European Society of Human Genetics.

Cascade counselling and testing. Recommendations of the European Society of Human Genetics.

Journal: European journal of human genetics : EJHG

Published: June 26, 2025

Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

Journal: Endocrine

Published: May 04, 2025

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Journal: Turkish archives of pediatrics

Published: March 17, 2025

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

Journal: Clinical genetics

Published: February 10, 2025

Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Journal: Nature medicine

Published: February 06, 2025

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.

Journal: Clinical genetics

Published: September 11, 2024

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.

Journal: Molecular syndromology

Published: August 28, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

Showing 1-12 of 184

Last Updated: 09/26/2026