Publications & Works

Publication Network
Articles 3
All (3)
SCI-E, SSCI, AHCI (2)
SCI-E, SSCI, AHCI, ESCI (3)
ESCI (1)
Scopus (3)
TRDizin (1)

1. Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey

KÖMÜR M., Caglar E., Akbeyaz s. H., Kecebas A., Yildiz E. P., SALTIK S., et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , vol.64, pp.56-64, 2026 (SCI-Expanded, Scopus)

2. Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4

Turk S., GÜNEŞ N., GÖK A., ŞENGENÇ E., Demirbilek V., Kasap B., et al.
TURKISH ARCHIVES OF PEDIATRICS , vol.61, no.2, 2026 (ESCI, Scopus, TRDizin)

3. Marinesco-Sjogren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature

Aslan E. S., Eslamkhah S., Akcali N., Yavas C., Batur L. K., ŞENGENÇ E., et al.
LIFE-BASEL , vol.15, no.12, 2025 (SCI-Expanded, Scopus) Sustainable Development
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UN Sustainable Development Goals
SDG 3: GOAL 3: GOOD HEALTH AND WELL-BEING