Yayınlar & Eserler

Yayın Ağı
Makaleler 4
Tümü (4)
SCI-E, SSCI, AHCI (4)
SCI-E, SSCI, AHCI, ESCI (4)
Scopus (4)

1. First Report of a Novel Pathogenic Variant in the RREB1 Gene Associated With Obesity and Metabolic Syndrome

Mammadova N., Yıldırım A., Hatipoğlu N., Dündar M.
Clinical Genetics , cilt.109, sa.1, ss.130-135, 2026 (SCI-Expanded, Scopus) identifier identifier identifier identifier

2. A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis

KİRAZ A., Erdogan M., Balta B., GÜMÜŞ H., Mutlu M. B., MAMMADOVA N., et al.
Neurogenetics , cilt.26, sa.1, 2025 (SCI-Expanded, Scopus) identifier identifier identifier identifier

3. Rare X;13 translocation with NR0B1 duplication in partial gonadal dysgenesis: A novel karyotype in DSD cases

KİRAZ A., MAMMADOVA N., Balta B., DEMİRCİ E., DEMİRCİ D., KARADAĞ A., et al.
Molecular biology reports , cilt.52, sa.1, ss.986, 2025 (SCI-Expanded, Scopus) identifier identifier

4. Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family

Mammadova N., Yildirim A. B., Sevim D., BOZKURT YOZGATLI T., SEZERMAN O. U., DÜNDAR M.
MOLECULAR BIOLOGY REPORTS , cilt.52, sa.1, 2025 (SCI-Expanded, Scopus) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier
Metrikler

Yayın

5

Yayın (WoS)

4

Yayın (Scopus)

4

Atıf (WoS)

1

H-İndeks (WoS)

1

Atıf (Scopus)

1

H-İndeks (Scopus)

1

Proje

1

Açık Erişim

1
BM Sürdürülebilir Kalkınma Amaçları