Fatmahan Atalar

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 32 publications

Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes.

Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes.

Journal: Italian journal of pediatrics

Published: January 12, 2026

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.

Journal: American journal of medical genetics. Part A

Published: June 18, 2025

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.

Journal: International journal of molecular sciences

Published: March 18, 2025

Thyroid Hormone Dynamics and DIO2 Variants in Schizophrenia: Exploring Genetic Links to Neuroendocrine Imbalance.

Thyroid Hormone Dynamics and DIO2 Variants in Schizophrenia: Exploring Genetic Links to Neuroendocrine Imbalance.

Journal: Journal of cellular and molecular medicine

Published: February 18, 2025

Enhancing Rare Disease Awareness and Education Among Medical Professionals and Students in Türkiye.

Enhancing Rare Disease Awareness and Education Among Medical Professionals and Students in Türkiye.

Journal: Journal of evaluation in clinical practice

Published: January 04, 2025

Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.

Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.

Journal: Orphanet journal of rare diseases

Published: December 14, 2024

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.

Journal: European journal of pediatrics

Published: December 11, 2024

Alamandine enhanced spatial memory in rats by reducing neuroinflammation and altering BDNF levels in the hippocampus and prefrontal cortex.

Alamandine enhanced spatial memory in rats by reducing neuroinflammation and altering BDNF levels in the hippocampus and prefrontal cortex.

Journal: Scientific reports

Published: November 06, 2024

An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.

An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.

Journal: International journal of genomics

Published: October 21, 2024

Alpha-mangostin and nab-paclitaxel in breast cancer cell models: improved antitumor efficacy through combination therapy.

Alpha-mangostin and nab-paclitaxel in breast cancer cell models: improved antitumor efficacy through combination therapy.

Journal: Cellular and molecular biology (Noisy-le-Grand, France)

Published: August 23, 2024

Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency.

Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency.

Journal: Scientific reports

Published: July 12, 2024

Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population.

Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population.

Journal: Gene

Published: May 29, 2024

Showing 1-12 of 32

Last Updated: 09/26/2026