Esra Isık

Ege, Turkey

Last Updated: 09/26/2026

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Found 15 publications

Curing the “Incurable”: First Successful Hematopoietic Stem Cell Transplantation in Severe Hereditary Spherocytosis with Homozygous SPTA1 Variant and Hepatic Fibrosis

Curing the “Incurable”: First Successful Hematopoietic Stem Cell Transplantation in Severe Hereditary Spherocytosis with Homozygous SPTA1 Variant and Hepatic Fibrosis

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology

Published: February 19, 2026

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Journal: Clinical genetics

Published: February 09, 2026

Childhood thiamine-responsive megaloblastic anemia and diabetes: a case series highlighting early diagnosis and management.

Childhood thiamine-responsive megaloblastic anemia and diabetes: a case series highlighting early diagnosis and management.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 26, 2025

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Journal: American journal of medical genetics. Part A

Published: April 18, 2025

Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience

Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience

Journal: Journal of clinical research in pediatric endocrinology

Published: April 11, 2025

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation

Journal: Journal of clinical research in pediatric endocrinology

Published: June 03, 2024

Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders.

Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders.

Journal: Birth defects research

Published: May 30, 2024

A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature.

A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature.

Journal: Immunologic research

Published: March 26, 2024

The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era.

The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era.

Journal: Pediatric neurology

Published: July 20, 2023

ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control?

ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control?

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 03, 2023

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Journal: Journal of clinical research in pediatric endocrinology

Published: September 16, 2020

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology

Published: February 07, 2020

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Last Updated: 09/26/2026