Makaleler
6
Tümü (6)
SCI-E, SSCI, AHCI (5)
SCI-E, SSCI, AHCI, ESCI (6)
ESCI (1)
Scopus (6)
1. NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.188, sa.1, ss.326-331, 2022 (SCI-Expanded, Scopus)
5. Clinical use of chromosomal microarray analysis in detection of fetal chromosomal abnormalities
MOLECULAR CYTOGENETICS
, cilt.12, 2019 (SCI-Expanded)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
14
1. Prenatal tanıda kromozomal mikroarrayin kullanımı: 423 olgu üzerinden merkezimizin deneyimi
14. ULUSAL TIBBİ GENETİK KONGRESİ, Türkiye, 20 - 22 Kasım 2020, cilt.31, ss.12, (Özet Bildiri)
3. Assessment of genes known to be associated with MODY by next-generation sequencing
ESHG 2019, 15 - 19 Haziran 2019, cilt.27, (Özet Bildiri)
5. A RARE CASE OF FRONTOTEMPORAL LOBAR DEGENERATION CAUSED BY VARIANTS OF GRN AND CHMP2B GENES
FENS Regional Meeting 2019, Belgrade, Sırbistan, 10 - 13 Temmuz 2019, (Özet Bildiri)
7. Assesment of Genes Known to be Assosiated with MODY by Next Generation Sequencing.
European Human Genetics Conference, Gothenburg, İsveç, 15 Haziran 2019, cilt.27, ss.1260, (Özet Bildiri)
9. A Patient with a Balanced Inversion of Chromosome 11 and Unbalancded Inversion of Chromosome 2.
Erciyes Medical Genetics Days, Kayseri, Türkiye, 21 Şubat 2019, cilt.21, ss.20, (Özet Bildiri)
10. Assesment of candidate genes in patients with frontotemporal lobar degeneration spectrum: preliminary findings
European Human Genetics Conference 2018, Milan, İtalya, 16 - 19 Haziran 2018, (Özet Bildiri)
12. A New Mutation Associated With Bannayan Riley Ruvalcaba Syndrome
Erciyes Tıp Genetik Günleri, Türkiye, 11 - 13 Mayıs 2017, cilt.39, (Özet Bildiri)
13. A NOVEL INDEL MUTATION IN THE TCOF1 GENE FOUND IN ANEWBORN WITH TREACHER COLLINS SYNDROME
Erciyes Medical Genetics Days, Türkiye, 11 - 13 Mayıs 2017, (Özet Bildiri)
14. Diagnosis rate of DNA fragment analysisi for patients with SMA symptomes
European Human Genetic Conference, Danimarka, 27 - 30 Mayıs 2017, (Özet Bildiri)