Pinar Ata

Pendik, Turkey

Last Updated: 09/26/2026

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Found 16 publications

Clinical course of proteinuria due to cubilin variants: a large multicenter pediatric cohort.

Clinical course of proteinuria due to cubilin variants: a large multicenter pediatric cohort.

Journal: Pediatric nephrology (Berlin, Germany)

Published: November 14, 2025

Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.

Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.

Journal: Clinical endocrinology

Published: September 09, 2025

Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.

Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.

Journal: The Journal of clinical endocrinology and metabolism

Published: August 08, 2024

The Association between Aminoglycoside Exposure and Ototoxicity in Children with Cystic Fibrosis.

The Association between Aminoglycoside Exposure and Ototoxicity in Children with Cystic Fibrosis.

Journal: Respiration; international review of thoracic diseases

Published: April 09, 2024

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.

Journal: Journal of medical virology

Published: May 01, 2022

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.

Journal: Journal of assisted reproduction and genetics

Published: September 06, 2021

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.

Journal: Metabolic syndrome and related disorders

Published: April 02, 2021

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.

Journal: Calcified tissue international

Published: September 18, 2020

Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family.

Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family.

Journal: Molecular syndromology

Published: July 31, 2020

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation.

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation.

Journal: Hormone research in paediatrics

Published: June 20, 2020

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Journal: Calcified tissue international

Published: November 20, 2019

Fibrodysplasia ossificans progressiva: lessons learned from a rare disease.

Fibrodysplasia ossificans progressiva: lessons learned from a rare disease.

Journal: Current opinion in pediatrics

Published: November 07, 2019

Showing 1-12 of 16

Last Updated: 09/26/2026