Publications by authors named "Esra Sayar"

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A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.
Esra Sayar, Gizem Gökçe Altaş, Abdullah Sezer, Abdulkerim Kolkıran, Berna Ucan

J Pediatr Endocrinol Metab· October 2025

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Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy.
Esra Sayar, Mustafa Kılıç, Suzan İcil, Pınar Saka-Ümit, Deniz Yuksel

Klin Padiatr· August 2025

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Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
Mustafa Kılıç, Esra Sayar, Suzan İcil, Sevgi Doğan, Gizem Gökçe-Altaş

Am J Med Genet A· July 2025

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Leigh Syndrome due to Variants: A Case Presentation and the Review of the Literature.
Halil Tuna Akar, Esra Sayar, Özlem Sarıtaş Nakip, Esra Sönmez, Mehmet Burak Özkan

Mol Syndromol· August 2024

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THE RELATIONSHIP BETWEEN FEAR OF COVID-19 AND LEVELS OF CYBERCHONDRIA AND EVALUATION OF AFFECTING FACTORS.
Sultan Esra Sayar, Zehra Demet Ust Tasgin, Gülsüm Gundogdu

Psychiatr Danub· November 2023

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Primary antibody deficiencies in Turkey: molecular and clinical aspects.
Sinem Firtina, Yuk Yin Ng, Ozden H Ng, Ayca Kiykim, Esra Yucel Ozek, Esra H Sayar

Immunol Res· February 2022

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Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects.
Sinem Firtina, Yuk Yin Ng, Ozden H Ng, Ayca Kiykim, Esra Yucel Ozek, Esra H Sayar

Immunol Res· February 2022

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Mutational landscape of severe combined immunodeficiency patients from Turkey.
Sinem Firtina, Yuk Yin Ng, Ozden Hatirnaz Ng, Ayca Kiykim, Elif Aydiner, Esra H Sayar

Int J Immunogenet· December 2020

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The frequency of vitamin B12, iron, and folic acid deficiency in the neonatal period and infancy, and the relationship with maternal levels.
Esra Hazar Sayar, Betül Biner Orhaner, Ersin Sayar, Fatma NesrinTuran, Mustafa Küçük

Turk Pediatri Ars· June 2020

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Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.
Nicholas Hernandez, Giorgia Bucciol, Leen Moens, Jérémie Le Pen, Mohammad Shahrooei, Esra Hazar Sayar

J Exp Med· September 2019

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Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.
Stéphanie Boisson-Dupuis, Noe Ramirez-Alejo, Zhi Li, Etienne Patin, Geetha Rao, Esra H Sayar

Sci Immunol· December 2018

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Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency.
Ersin Gul, Esra Hazar Sayar, Bilgi Gungor, Fehime Kara Eroglu, Naz Surucu

J Allergy Clin Immunol· July 2018

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Hematopoietic stem cell transplantation from unrelated donors in children with DOCK8 deficiency.
Dilara Fatma K Uygun, Vedat Uygun, İsmail Reisli, Sevgi Keleş, Ahmet Özen, Esra H Sayar

Pediatr Transplant· November 2017

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Ocular Findings in Children With 22q11.2 Deletion Syndrome.
Bahar Gokturk, Pinar Topcu-Yilmaz, Banu Bozkurt, Mahmut Selman Yildirim, Sukru Nail Guner, Esra Hazar Sayar

J Pediatr Ophthalmol Strabismus· July 2016

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The Ineffectiveness of Tacrolimus in an Infant With a Mutation in the IL-10 Receptor.
Ersin Sayar, Aylin Yucel, Bianca Eisele, Esra Hazar Sayar, Erik Glocker

J Clin Gastroenterol· April 2016

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How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease?
Sevket Arslan, Ramazan Ucar, Ahmet Zafer Caliskaner, Ismail Reisli, Sukru Nail Guner, Esra Hazar Sayar

Ann Allergy Asthma Immunol· February 2016

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DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Timo Volk, Ulrich Pannicke, Ismail Reisli, Alla Bulashevska, Julia Ritter, Esra H Sayar

Hum Mol Genet· December 2015

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