Burcu Türkgenç

Akademik Profiller

1. 1
   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 AutopsyApplied Immunohistochemistry & Molecular Morphology
   2023
2. 2
   MGMT in glial carcinogenesis. Roles from prevention to treatmentEuropean Journal of Cancer Prevention
   2022
3. 3
   Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics ConsortiumFunctional & Integrative Genomics
   2022
4. 4
   Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders[]
   2022
5. 5
   Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male InfertilityThe American Journal of Human Genetics
   2020
6. 6
   Biallelic mutations in M1AP are associated with meiotic arrest, severely impaired spermatogenesis and male infertilityEuropean Journal of Human Genetics
   2020
7. 7
   Whole Exome Sequencing of consanguineous families of clinically diagnosed with Neurodevelopmental DisordersEuropean Journal of Human Genetics
   2020
8. 8
   A novel homozygous nonsense mutation in CAST associated with PLACK syndromeCell and Tissue Research
   2019
9. 9
   Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndromeConnective Tissue Research
   2019
10. 10
    A balanced translocation t(2;7)(p21;p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of Saethre-Chotzen/Robinow-Sarouf syndromesEuropean Journal of Human Genetics
    2019

Yayın listesi ORCID kaydından alındı.