Makaleler
10
Tümü (10)
SCI-E, SSCI, AHCI (6)
SCI-E, SSCI, AHCI, ESCI (7)
ESCI (1)
Scopus (9)
TRDizin (1)
Diğer Yayınlar (1)
3. Research of genetic bases of hereditary non-syndromic hearing loss
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
, cilt.52, sa.3, ss.122-132, 2017 (ESCI, Scopus, TRDizin)
4. The effect of parental 5,10-methylenetetrahydrofolate reductase 677C/T and 1298A/C gene polymorphisms on response to single-dose methotrexate in tubal ectopic pregnancy
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
, cilt.30, sa.10, ss.1232-1237, 2017 (SCI-Expanded, Scopus)
6. ATP6V1B1 Mutations in Distal Renal Tubular Acidosis and Sensorineural Hearing Loss: Clinical and Genetic Spectrum of Five Families
RENAL FAILURE
, cilt.35, sa.9, 2013 (SCI-Expanded, Scopus)
7. Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
MOLECULAR GENETICS AND METABOLISM
, cilt.107, ss.534-541, 2012 (SCI-Expanded, Scopus)
8. Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
FERTILITY AND STERILITY
, cilt.96, ss.125-130, 2011 (SCI-Expanded, Scopus)
10. Healthcare In Overview Of Turkey
EPMA JOURNAL
, cilt.1, sa.4, ss.587-594, 2010 (Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
11
1. A Study df CDKL5 Gene Mutations in Pediatric Patients with Persistent Seizure, Autistic Disorder and Seizure in Addition to Autistic Disorder During Infancy and Early Childhood
European Biotechnology Congress, Slovakya, 1 - 04 Temmuz 2013, (Tam Metin Bildiri)
2. A de nova SRCAP Mutation Associated with Floating-Harbor Syndrome.
European Biotechnology Congress, Slovakya, 1 - 04 Temmuz 2013, (Tam Metin Bildiri)
4. Fenilketonüri Hastalarında Fenilalanin Hidroksilaz Geninde Görülen Yaygın Mutasyonların Taranması
10. Ulusal Tıbbi Genetik Kongresi, Bursa, Türkiye, 1 - 04 Aralık 2012, (Tam Metin Bildiri)
5. EBP Mutation in Conradi–Hunermann–Happle Syndrome with Psoriasiform Plaques
10. Ulusal Tıbbi Genetik Kongresi, Bursa, Türkiye, 1 - 04 Aralık 2012, (Tam Metin Bildiri)
6. A Novel FGFR3 Mutation in Hypochondroplasia
10. Ulusal Tıbbi Genetik Kongresi, Bursa, Türkiye, 1 - 04 Aralık 2012, (Tam Metin Bildiri)
