Yayınlar & Eserler

Yayın Ağı
SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the <i>AHI1</i> Gene

ATASAY R., YILMAZ L. N., Gulec A., CANPOLAT M., PER H., KARDAŞ F., et al.
MOLECULAR SYNDROMOLOGY , 2024 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier

Biochemical risk factors associated with refractory epilepsy: alpha synuclein and adenosine deaminase

Sener N., Keti D., GÜLEÇ A., CANPOLAT M., PER H., GÜMÜŞ H., et al.
REVISTA ROMANA DE MEDICINA DE LABORATOR , cilt.32, sa.3, 2024 (SCI-Expanded) identifier

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

Harms F. L., Rexach J. E., Efthymiou S., Aynekin B., PER H., Gulec A., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.32, sa.5, ss.558-566, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study

Sarıkaya Uzan G., Vural A., Yüksel D., Aksoy E., Öztoprak Ü., CANPOLAT M., et al.
Pediatric Neurology , cilt.145, ss.3-10, 2023 (SCI-Expanded) identifier identifier identifier

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations

YILDIRIM S., GÜLEÇ A., Erdoğan M., Demir M., CANPOLAT M., GÜMÜŞ H., et al.
Pediatric Neurology , cilt.136, ss.43-49, 2022 (SCI-Expanded) identifier identifier identifier
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

A novel pathogenic variant in VARS1 associated with a syndromic neurodevelopmental disorder with craniofacial, and neuroradiological abnormalities in a Turkish family

Aynekin B., GÜLEÇ A., Karagoz I., YEŞİL SAYIN G., PER H., Houlden H., et al.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.207-208 identifier

A novel homozygous variant inSUOXgene causes classic isolated sulfite oxidase deficiency: a case report

USLU K., GÜLEÇ A., ARSLAN S., BAŞGÖZ N., KARDAŞ F., PER H., et al.
6.ULUSLARARASI ERCİYES TIP TIBBİ GENETİK KONGRESİ, Kayseri, Türkiye, 16 Eylül 2021, ss.30
Metrikler

Yayın

9

Atıf (WoS)

6

H-İndeks (WoS)

1

Atıf (Scopus)

8

H-İndeks (Scopus)

2
BM Sürdürülebilir Kalkınma Amaçları