Filiz Hazan

Izmir, Turkey

Last Updated: 09/26/2026

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Found 62 publications

Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report.

Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report.

Journal: Fetal and pediatric pathology

Published: August 20, 2026

Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing.

Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 20, 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

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 13, 2025

Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.

Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.

Journal: BMC immunology

Published: August 18, 2025

A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28.

A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28.

Journal: Molecular syndromology

Published: May 13, 2025

Clinical and molecular characterization of 5α-reductase deficiency type 2: First report of a family with homozygous deletion in exon 1 of SRD5A2.

Clinical and molecular characterization of 5α-reductase deficiency type 2: First report of a family with homozygous deletion in exon 1 of SRD5A2.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: April 30, 2025

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.

Journal: Molecular syndromology

Published: October 22, 2024

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Journal: European journal of pediatrics

Published: August 07, 2024

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

Journal: Pediatric neurology

Published: August 06, 2024

A rare case of skeletal dysplasia: biallelic variant in ACAN gene.

A rare case of skeletal dysplasia: biallelic variant in ACAN gene.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 04, 2024

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 14, 2023

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Last Updated: 09/26/2026