Hatice Ruhi-Ilgın

Ankara, Turkey

Last Updated: 09/26/2026

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Found 11 publications

Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia

Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia

Journal: Balkan medical journal

Published: October 28, 2022

Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.

Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 27, 2021

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Journal: American journal of medical genetics. Part A

Published: September 17, 2021

Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.

Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.

Journal: Cytogenetic and genome research

Published: December 06, 2019

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.

Journal: Cytogenetic and genome research

Published: March 31, 2017

Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment.

Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment.

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

Published: February 10, 2017

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.

Journal: Clinical dysmorphology

Published: November 22, 2016

Bilateral choanal atresia in an adult woman with pycnodysostosis.

Bilateral choanal atresia in an adult woman with pycnodysostosis.

Journal: Congenital anomalies

Published: October 12, 2016

Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey.

Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey.

Journal: Genetic testing and molecular biomarkers

Published: June 09, 2015

Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.

Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 05, 2014

Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat.

Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat.

Journal: Genetic counseling (Geneva, Switzerland)

Published: May 03, 2014

Showing 1-11 of 11

Last Updated: 09/26/2026