Mehmet Ali Söylemez

Akademik Profiller

1. 1
   Novel, homozygous RAB3GAP1 c.2606+1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndromeClinical Dysmorphology
   2023
2. 2
   First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current LiteratureMolecular Syndromology
   2022
3. 3
   Two new cases diagnosed with Hermansky-Pudlak SyndromeEuropean Journal of Human Genetics
   2022
4. 4
   Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiencyJournal of Assisted Reproduction and Genetics
   2022
5. 5
   Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish FamilyMolecular Syndromology
   2021
6. 6
   Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters.European journal of human genetics : EJHG
   2020
7. 7
   Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.European journal of human genetics : EJHG
   2020
8. 8
   Characterization of BRCA Genes' Variants in Turkish Hereditary Breast and Ovarian Cancer(HBOC) PatientsEuropean Journal of Human Genetics
   2020
9. 9
   Expanding of mutation spectrum in Muscular Dystrophies: A Turkish CohortEuropean Journal of Human Genetics
   2020
10. 10
    Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29European Journal of Human Genetics
    2020

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