Publications by authors named "Burcu Turkgenc"

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Molecular analysis of and gene deletions and relationships with clinical subtypes of spinal muscular atrophy.
Nilgun Karasu, Hamit Acer, Hilal Akalin, Burcu Turkgenc, Mikail Demir

J Neurogenet· September 2024

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From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.
Burcu Turkgenc, Cetin L Baydar, Idris Deniz, Arzu Akcay, Mahmut Cerkez Ergoren

Appl Immunohistochem Mol Morphol· November 2023

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MGMT in glial carcinogenesis. Roles from prevention to treatment.
İlhan Elmaci, Meric A Altinoz, Eylem Burcu Kahraman Ozlu, Ramazan Sari, Ozlem Er, Burcu Turkgenc

Eur J Cancer Prev· November 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, Burcu Turkgenc

Funct Integr Genomics· June 2022

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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Margot J Wyrwoll, Şehime G Temel, Liina Nagirnaja, Manon S Oud, Alexandra M Lopes

Am J Hum Genet· August 2020

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Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Mahmut Cerkez Ergoren, Burcu Turkgenc, Kerem Teralı, Orhan Rodoplu, Aline Verstraeten

Connect Tissue Res· March 2019

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STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
Burcu Turkgenc, Burcin Sanlidag, Amber Eker, Aslı Giray, Ozgur Kutuk

Hum Mutat· October 2018

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"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M Bostan, Elif Evke

BMC Med Genet· October 2017

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A Novel Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
Nese Akcan, Nedime Serakıncı, Burcu Turkgenc, Ruveyde Bundak, Nerin Bahceciler

Front Endocrinol (Lausanne)· April 2017

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