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Burcu Türkgenç

Observed names: B. Turkgenc, B. Turkgenç, B. Türkgenç, Burcu Turkgenc, Burcu Türkgenç, Burcu, Turkgenc, Turkgenc, B., Turkgenc, Burcu, Türkgenç, B., Türkgenç, Burcu
ORCID: 0000-0001-7306-5866
Observed ORCID: 0000-0001-7306-5866
OpenAlex ID: A5004665726
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
2020 · Margot J. Wyrwoll, Şehime G. Temel, et al. · The American Journal of Human Genetics · 104
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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
2022 · Munis Dundar, Umut Fahrioglu, et al. · Functional & Integrative Genomics · 20
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections
2017 · Nese Akcan, Nedime Serakıncı, et al. · Frontiers in Endocrinology · 20
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STUB1polyadenylation signal variant AACAAA does not affect polyadenylation but decreasesSTUB1translation causing SCAR16
2018 · Burcu Turkgenc, Burcin Sanlidag, et al. · Human Mutation · 15
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A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
2019 · Şehime Gülsün Temel, B. Karakaş, et al. · Cell and Tissue Research · 12
Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy
2024 · Nilgun Karasu, Hamit Acer, et al. · Journal of Neurogenetics · 5
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Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome
2018 · Mahmut Cerkez Ergoren, Burcu Turkgenc, et al. · Connective Tissue Research · 5
“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”
2017 · Fahrettin Uysal, Burcu Turkgenc, et al. · BMC Medical Genetics · 5
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MGMT in glial carcinogenesis. Roles from prevention to treatment
2022 · İlhan Elmaci, Meric A. Altinoz, et al. · European Journal of Cancer Prevention · 4
The potential role of dynein heavy chain genes in the pathophysiology of undescended testis
2026 · Sinan Kılıç, Burcu Turkgenc, et al. · Pediatric Surgery International · 2
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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
2023 · Burcu Turkgenc, Cetin L. Baydar, et al. · Applied immunohistochemistry & molecular morphology · 2
Investigation of CLOCK rs1801260 Polymorphism of Circadian Genes in Schizophrenia Patients
2026 · Patima Yekayeva, Burcu Türkgenç, et al. · Eurasian Journal of Medicine
Transcriptomic Analysis of GLUT10 Deficiency in Arterial Tortuosity Syndrome
2026 · Gulden Yorgancioglu Budak, Nurdeniz Nalbant, et al. · The EuroBiotech Journal
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Investigation of the role of syndecan-1 in the entry of foot-and-mouth disease virus into the cell
2024 · Abdurrahman Kurt, Hayriye Akel Bilgic, et al.
An Original Genetic Protocol For The Investigation of Y Microdeletions In Male Infertile Patients
2024 · Akhundova, Aysen, Canbek, Sezin, et al. · OSMANGAZİ JOURNAL OF MEDICINE
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Biallelic mutations in M1AP are associated with meiotic arrest, severely impaired spermatogenesis and male infertility
2020 · TEMEL, ŞEHİME GÜLSÜN, Tuettelmann, F., et al. · Bursa Uludag University - AVESIS
Whole exome sequencing of consanguineous families of clinically diagnosed with neurodevelopmental disorders
2020 · Burcu Türkgenç, Kanay Yararbaş, et al.
Identification of a Novel Genetic Cause of Familial Nonobstructive Azospermia
2019 · Temel, ŞEHİME GÜLSÜN, Kahraman, S., et al. · Bursa Uludag University - AVESIS
A balanced translocation t(27)(p21p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of Saethre-Chotzen/Robinow-Sarouf syndromes
2019 · Temel, ŞEHİME GÜLSÜN, Morton, C., et al. · Bursa Uludag University - AVESIS
Next Generation Sequencing (NGS) panel revealed new candidate genes and variants in 25 Hypertrophic Cardiomyopathy patients
2019 · Temel, ŞEHİME GÜLSÜN, Yakicier, M. C., et al. · Bursa Uludag University - AVESIS
A novel homozygous nonsense mutation in the calpastatin (CAST) gene associated with peeling skin phenotype in a child
2018 · SARICAOĞLU, HAYRİYE, Yakicier, Cengiz, et al. · Bursa Uludag University - AVESIS
Postmortem genetic testing in sudden cardiac death: To be or not to be?
2018 · Sehime Gulsun Temel, Burcu Turkgenc, et al. · Journal of Biotechnology
Lysinuric protein intolerance and HOIP deficiency in a boy: SLCA7A and RNF31 gene disruptions
2018 · Lamiya Aliyeva, Sahin Erdol, et al. · Journal of Biotechnology
Robinow, Ter-Haar, Teebi or a new syndrome: Complex genotype with distinctive craniofacial features
2017 · TEMEL, ŞEHİME GÜLSÜN, UYSAL, FAHRETTİN, et al. · Bursa Uludag University - AVESIS
The association of TMPO and RYR1 genes with cardiovascular diseases in a Turkish Cypriot Family.
2017 · TEMEL, ŞEHİME GÜLSÜN, Turkgenc, Burcu, et al. · Bursa Uludag University - AVESIS
Works count: 37
Citation count: 194
H-index: 5
I10-index: 5
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