Publications by authors named "Naz Guleray"

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Long-Term Clinical Characterization of ENTPD1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.
Dilsu Dicle Erkan, Oğuz Lafcı, Ülkühan Öztoprak, Göknur Haliloğlu, Naz Güleray

Int J Dev Neurosci· August 2025

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Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
Naz Güleray, Can Koşukcu, Sümeyra Oğuz, Gizem Ürel Demir, Ekim Z Taşkıran

Cleft Palate Craniofac J· September 2022

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Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience.
Asburce Olgac, Çiğdem Seher Kasapkara, Betül Derinkuyu, Deniz Yüksel, Semra Çetinkaya

J Pediatr Endocrinol Metab· September 2021

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An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.
Fatma Kurt Colak, Naz Guleray, Ebru Azapagasi, Mutlu Uysal Yazıcı, Erhan Aksoy

Acta Neurol Belg· December 2020

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Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Naz Guleray, Can Kosukcu, Zihni Ekim Taskiran, Pelin Ozlem Simsek Kiper, Gulen Eda Utine

Fetal Pediatr Pathol· April 2020

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A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.
Seza Özen, Ezgi Deniz Batu, Ekim Z Taşkıran, Hatice Asuman Özkara, Şule Ünal

J Rheumatol· January 2020

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Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Naz Guleray, Pelin Ozlem Simsek Kiper, Gulen Eda Utine, Koray Boduroglu, Mehmet Alikasifoglu

Eur J Med Genet· November 2019

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Retrospective analysis of indications for termination of pregnancy.
Ozgur Ozyuncu, Gokcen Orgul, Atakan Tanacan, Fatih Aktoz, Naz Guleray

J Obstet Gynaecol· April 2019

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HERC1 mutations in idiopathic intellectual disability.
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray

Eur J Med Genet· May 2017

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