Publications by authors named "Elcin Bora"

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Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
Hande Ozkalayci, Elcin Bora, Tufan Cankaya, Mehmet Kocabey, Nadide Cemre Zubari

Neurogenetics· July 2024

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Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.
Pınar Güney Aslan, Ahmet Okay Çağlayan, Elçin Bora, Altuğ Koç, Hilal Yücel

Turk J Gastroenterol· March 2024

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Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.
Elcin Bora, Ayca Yıldız Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç

Mol Syndromol· October 2023

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Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results.
Sureyya Saridas Demir, Erkan Cagliyan, Derya Öztürk, Samican Özmen, Sabahattin Altunyurt, Elcin Bora

J Obstet Gynaecol· October 2022

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Elcin Bora

Funct Integr Genomics· June 2022

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Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.
Elcin Bora, Ahmet Okay Caglayan, Altug Koc, Tufan Cankaya, Hande Ozkalayci

Cancer Genet· April 2022

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The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Atay Vural, Gülşah Şimşir, Şeyma Tekgül, Cemile Koçoğlu, Fulya Akçimen, Elçin Bora, Ayşe Bora Tokçaer

Mov Disord· July 2021

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Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel Mutation.
Gülden Akdal, Koray Koçoğlu, Elçin Bora, Altuğ Koç, Ayfer Ülgenalp

Neurol Clin Pract· April 2021

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Vestibular impairment in Charcot-Marie-Tooth disease.
Gülden Akdal, Koray Koçoğlu, Tural Tanrıverdizade, Elçin Bora, Fikret Bademkıran

J Neurol· February 2021

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Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia.
Gülden Akdal, Koray Koçoğlu, Cemile Koçoğlu, Elçin Bora, Ayşe Nazlı Başak

Clin Neurophysiol· January 2021

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Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages.
Duygu Onur Cura, Elcin Bora, Hande Ozkalayci, Ozgur Kirbiyik, Yasar B Kutbay

Cytogenet Genome Res· September 2019

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A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation.
Ali Osman Saatci, Ziya Ayhan, Aylin Yaman, Elcin Bora, Ayfer Ulgenalp

Case Rep Ophthalmol· August 2018

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Assessment of sleep problems in children with familial Mediterranean fever.
Balahan Makay, Serdar Kamer Kiliçaslan, Ahmet Anik, Elçin Bora, Özlem Bozkaya

Int J Rheum Dis· December 2017

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Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias.
Sezer Acar, Hale Tuhan, Elçin Bora, Korcan Demir, Hüseyin Onay

Hormones (Athens)· July 2017

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Analysis of first-trimester combined test results in preparation for a cell-free fetal DNA era.
Semir Kose, Dilek Cımrın, Nuri Yıldırım, Ozge Aksel, Pembe Keskinoglu, Elcin Bora

Int J Gynaecol Obstet· November 2016

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Cardiac autonomic functions in children with familial Mediterranean fever.
Murat Şahin, Mustafa Kır, Balahan Makay, Pembe Keskinoğlu, Elçin Bora

Clin Rheumatol· May 2016

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Termination of pregnancy for fetal abnormalities: main arguments and a decision-tree model.
Semir Kose, Sabahattin Altunyurt, Nuri Yıldırım, Pembe Keskinoğlu, Tufan Çankaya, Elçin Bora

Prenat Diagn· November 2015

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Risk factors for subclinical inflammation in children with Familial Mediterranean fever.
Meral Torun Bayram, Tufan Çankaya, Elçin Bora, Salih Kavukçu, Ayfer Ülgenalp

Rheumatol Int· August 2015

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Alpha-2-adrenergic receptor gene polymorphism in Turkish population with irritable bowel syndrome.
Funda Uğur Kantar, İlkay Simşek, Derya Ercal, Ayfer Ülgenalp, Elçin Bora

Turk J Gastroenterol· January 2015

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Lack of association of childhood partial epilepsy with brain derived neurotrophic factor gene.
Aycan Unalp, Elcin Bora, Tufan Cankaya, Ozlem Giray Bozkaya, Derya Ercal

ScientificWorldJournal· September 2012

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New mutations in the ATM gene and clinical data of 25 AT patients.
Ilja Demuth, Véronique Dutrannoy, Wilson Marques, Heidemarie Neitzel, Detlev Schindler, Elcin Bora

Neurogenetics· November 2011

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Multiple pterygium syndrome with horseshoe kidney and polydactyly: a further case.
Özlem Giray, Elcin Bora, Derya Ercal

Clin Dysmorphol· April 2009

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Role of apolipoprotein E in febrile convulsion.
Ozlem Giray, Ayfer Ulgenalp, Elçin Bora, Nedret Uran, Ebru Yilmaz

Pediatr Neurol· October 2008

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Clinical and morphological phenotype of geleophysic dysplasia.
Ozlem Giray, Mustafa Kýr, Elçin Bora, Gül Saylam, Baran Ugurlu

Ann Trop Paediatr· June 2008

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Long-standing fever and Angelman syndrome: report of two cases.
Uluç Yiş, Ozlem Giray, Semra H Kurul, Elçin Bora, Ayfer Ulgenalp

J Paediatr Child Health· May 2008

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