Hatice I. Ruhi

Ankara, Turkey

Last Updated: 09/26/2026

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Found 13 publications

Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiency.

Mutation analysis of the FOXL2 and BMP15 genes in patients with premature ovarian insufficiency.

Journal: Turkish journal of obstetrics and gynecology

Published: May 11, 2026

Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity.

Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity.

Journal: Journal of clinical practice and research

Published: January 21, 2026

Near-final height outcomes in children with idiopathic short stature responsive to the IGF-1 generation test: a multicenter retrospective study of rhGH therapy.

Near-final height outcomes in children with idiopathic short stature responsive to the IGF-1 generation test: a multicenter retrospective study of rhGH therapy.

Journal: BMC endocrine disorders

Published: August 19, 2025

De novo germline TP53 mutation in a pediatric patient with Li-Fraumeni syndrome and diffuse peritoneal mesothelioma.

De novo germline TP53 mutation in a pediatric patient with Li-Fraumeni syndrome and diffuse peritoneal mesothelioma.

Journal: Pediatric blood & cancer

Published: April 03, 2024

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Journal: Journal of medical virology

Published: December 09, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Journal: Functional & integrative genomics

Published: July 09, 2021

Analysis of Xq27.3 Fragility Using the Micronucleus-Fluorescence In situ Hybridization Assay.

Analysis of Xq27.3 Fragility Using the Micronucleus-Fluorescence In situ Hybridization Assay.

Journal: Genome integrity

Published: October 28, 2020

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.

Journal: Fetal and pediatric pathology

Published: January 31, 2020

Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.

Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.

Journal: The British journal of dermatology

Published: November 23, 2018

Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey.

Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey.

Journal: Turkish journal of medical sciences

Published: June 09, 2016

Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.

Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.

Journal: Journal of clinical research in pediatric endocrinology

Published: January 14, 2016

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

Journal: Journal of pediatric and adolescent gynecology

Published: July 17, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026