Tugba Kalayci

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 47 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

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

Genetic Insights into Persistent Hypouricemia in Adults: Novel Findings from an Adult Nephrogenetic Clinic.

Genetic Insights into Persistent Hypouricemia in Adults: Novel Findings from an Adult Nephrogenetic Clinic.

Journal: Kidney diseases (Basel, Switzerland)

Published: March 10, 2026

Functional impact of a novel intronic TG variant in congenital goiter and thyroid dyshormonogenesis.

Functional impact of a novel intronic TG variant in congenital goiter and thyroid dyshormonogenesis.

Journal: Hormone research in paediatrics

Published: January 30, 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal: Journal of medical genetics

Published: December 26, 2025

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Journal: Prenatal diagnosis

Published: December 09, 2025

Evaluation of ear structures on fetal MRI: A comparative analysis at 1.5-T and 3-T.

Evaluation of ear structures on fetal MRI: A comparative analysis at 1.5-T and 3-T.

Journal: Auris, nasus, larynx

Published: November 16, 2025

Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know?

Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know?

Journal: European urology open science

Published: October 16, 2025

Genetic Variants in DVL3 are Associated With Root Maldevelopment, Tooth Agenesis, Mesiodens, and Oral Exostoses.

Genetic Variants in DVL3 are Associated With Root Maldevelopment, Tooth Agenesis, Mesiodens, and Oral Exostoses.

Journal: International dental journal

Published: August 31, 2025

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Journal: American journal of human genetics

Published: July 19, 2025

Phenotypes of patients with more than one autoinflammatory disease-associated gene variant: overlapping and mixed autoinflammatory disorders.

Phenotypes of patients with more than one autoinflammatory disease-associated gene variant: overlapping and mixed autoinflammatory disorders.

Journal: Rheumatology (Oxford, England)

Published: May 16, 2025

Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye.

Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye.

Journal: Journal of community genetics

Published: March 27, 2025

Showing 1-12 of 47

Last Updated: 09/26/2026