Elcin Bora

Dokuz Eylul, Turkey

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 20 publications

Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.

Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.

Journal: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
Published: August 08, 2024

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Journal: Neurogenetics
Published: November 20, 2023

Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results.

Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results.

Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
Published: August 25, 2022

Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.

Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.

Journal: Molecular syndromology
Published: July 04, 2022

Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.

Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.

Journal: Cancer genetics
Published: September 06, 2021

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

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation.

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation.

Journal: Neurology. Clinical practice
Published: April 12, 2021

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 13, 2020

Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia.

Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: October 01, 2020

Vestibular impairment in Charcot-Marie-Tooth disease.

Vestibular impairment in Charcot-Marie-Tooth disease.

Journal: Journal of neurology
Published: July 09, 2020

Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages.

Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages.

Journal: Cytogenetic and genome research
Published: April 17, 2019

A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation.

A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation.

Journal: Case reports in ophthalmology
Published: July 04, 2018
Showing 1-12 of 20

Last Updated: 09/26/2026