Makaleler
33
Tümü (33)
SCI-E, SSCI, AHCI (30)
SCI-E, SSCI, AHCI, ESCI (32)
ESCI (2)
Scopus (32)
TRDizin (2)
5. Digital droplet PCR for detection of SMN1 deletion in low-concentration fragmented cell-free DNA: a proof of concept study
Scandinavian Journal of Clinical and Laboratory Investigation
, cilt.86, sa.2, ss.158-165, 2026 (SCI-Expanded, Scopus)
7. Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo
Journal of Assisted Reproduction and Genetics
, cilt.42, sa.12, ss.4163-4175, 2025 (SCI-Expanded, Scopus)
10. Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency
NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
, cilt.34, sa.7, ss.1798-1806, 2024 (SCI-Expanded, Scopus)
14. Association between clinical variations and copy number variations in cases with Turner syndrome
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.35, sa.9, ss.1161-1168, 2022 (SCI-Expanded, Scopus)
16. Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
, cilt.61, sa.1, ss.122-126, 2022 (SCI-Expanded, Scopus)
18. 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey
TURKISH JOURNAL OF MEDICAL SCIENCES
, cilt.51, sa.4, ss.1775-1780, 2021 (SCI-Expanded, Scopus, TRDizin)
21. Sluggish Cognitive Tempo and Attention Deficit Hyperactivity Disorder: Similarities and Differences Yavaş Bilişsel Tempo ve Dikkat Eksikliği Hiperaktivite Bozukluğu: Benzerlikleri ve Farklılıkları
Turkish Journal of Child and Adolescent Mental Health
, cilt.27, sa.3, ss.170-179, 2020 (Scopus, TRDizin)
24. A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea
JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY
, cilt.29, sa.5, ss.396-398, 2019 (SCI-Expanded, Scopus)
26. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.29, sa.9, ss.1111-1114, 2016 (SCI-Expanded, Scopus)