Elif Gulec-Yılmaz

Göztepe Prof. Dr. Süleyman Yalçın City Hospital
Goztepe, Turkey

Last Updated: 09/26/2026

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Found 23 publications

Clinical and Molecular Findings in Two Siblings with a Novel Homozygous DCAF17 Frameshift Variant and Review of the Literature: A Case Report.

Clinical and Molecular Findings in Two Siblings with a Novel Homozygous DCAF17 Frameshift Variant and Review of the Literature: A Case Report.

Journal: Molecular syndromology

Published: March 04, 2026

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Journal: Balkan medical journal

Published: December 01, 2025

Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.

Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause.

Journal: Medeniyet medical journal

Published: September 29, 2025

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Journal: American journal of human genetics

Published: June 20, 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

Down Syndrome: From Pregnancy through Childhood in Türkiye.

Down Syndrome: From Pregnancy through Childhood in Türkiye.

Journal: Molecular syndromology

Published: May 02, 2025

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Journal: Nature

Published: April 24, 2025

Two Siblings with Missense Homozygous ABCA3 R43H Mutation Showing Good Response to Glucocorticoid.

Two Siblings with Missense Homozygous ABCA3 R43H Mutation Showing Good Response to Glucocorticoid.

Journal: Indian journal of pediatrics

Published: April 20, 2025

A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey

A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey

Journal: Journal of clinical research in pediatric endocrinology

Published: November 23, 2022

The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome.

The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome.

Journal: Medeniyet medical journal

Published: September 21, 2022

An intermediate phenotype in IDH related enchondromatosis spectrum.

An intermediate phenotype in IDH related enchondromatosis spectrum.

Journal: European journal of medical genetics

Published: September 01, 2022

Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.

Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.

Journal: Medeniyet medical journal

Published: June 23, 2022

Showing 1-12 of 23

Last Updated: 09/26/2026