Arş. Gör. Dr. AYTEN GÜLEÇ

Yayın Ağı

Makaleler 8

1. Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33

Aynekin B., Samur B. M., Gumus U. G. O., BİLGÜVAR K., Gulec A., Efthymiou S., et al.

MOLECULAR SYNDROMOLOGY , cilt.16, sa.5, ss.411-420, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

2. **Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene**

ATASAY R., YILMAZ L. N., Gulec A., CANPOLAT M., PER H., KARDAŞ F., et al.

MOLECULAR SYNDROMOLOGY , cilt.16, sa.3, ss.271-277, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

3. Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families

Aynekin B., Akbaş S., GÜLEÇ A., Gumus U. G. O., Guner A. E., Efthymiou S., et al.

Neurogenetics , cilt.26, sa.1, ss.23, 2025 (SCI-Expanded, Scopus)

4. Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome

Kanmaz S., Yılmaz S., Dündar N. O., Aksoy A., CANPOLAT M., PER H., et al.

Journal of Child Neurology , 2025 (SCI-Expanded, Scopus)

5. 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)

6. 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, Scopus) Sürdürülebilir Kalkınma

7. 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, Scopus)

8. 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, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 2

1. 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, (Özet Bildiri)

2. 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, (Özet Bildiri)

Metrikler

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Yayın (Scopus)

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Atıf (Scopus)

H-İndeks (Scopus)

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