Uzmanlık Öğrencisi MUHAMMED FATİH MULAYIM | AVESİS

Akademik Veri Yönetim Sistemi

Yayınlar & Eserler

Makaleler 6

1. VEXAS syndrome and cancer: Insights about a possible "Tip of the Iceberg". Ambidirectional data from the international AIDA network registries.

Seminars in arthritis and rheumatism , cilt.77, ss.152932, 2026 (SCI-Expanded, Scopus)

2. DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies

BRAIN : A JOURNAL OF NEUROLOGY , sa.2026, ss.1-46, 2026 (SCI-Expanded, Scopus)

3. Is a variant of uncertain significance always 'insignificant'? A systematic review on PRF1 A91V in Hemophagocytic Lymphohistocytosis and comparative analysis with Still's disease.

Çakır İ. Y., Erden A., Bölek E. Ç., Mulayim M. F., Duran R., Karaduman İ., et al.

Orphanet journal of rare diseases , 2026 (SCI-Expanded, Scopus)

4. Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.

Kayhan G., Ozaslan A., Işeri E., Guney E., Kazan H. H., Buyuktaskin D., et al.

Genes , cilt.17, sa.2, 2026 (SCI-Expanded, Scopus)

5. Findings from single center exome sequencing in pediatric autism: an analysis of genetic variants and clinical correlations

Kayhan G., Mulayım M. F., Ozaslan A., Iseri E., Guney E., Buyuktaskin D., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.33, sa.1, ss.793, 2025 (SCI-Expanded, Scopus)

6. A case of U2AF2 -related developmental disorder: long-term follow-up and expansion of the phenotype.

MULAYIM M. F., DEMİRBAŞ M. H., Percin F. E., ARHAN E., KAYHAN G.

Clinical dysmorphology , cilt.33, sa.4, ss.171-175, 2024 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 2

1. Findings from single center exome sequencing in pediatric autism: an analysis of genetic variants and clinical correlations

Kayhan G., MULAYIM M. F., ÖZASLAN A., İŞERİ E., GÜNEY E., BÜYÜKTAŞKIN TUNÇTÜRK D., et al.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, İtalya, 24 - 27 Mayıs 2025, cilt.33, sa.1, ss.793, (Özet Bildiri)

2. Genetic Insights into Retinoblastoma: Somatic Mosaicism and Clinical Correlations

Mulayım M. F., Vural Ö., Atalay H. T., Kayhan G.

International Hereditary Cancers Congress, Antalya, Türkiye, 6 - 08 Şubat 2025, cilt.36, ss.32, (Özet Bildiri)

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Metrikler

Yayın

9

Yayın (WoS)

7

Yayın (Scopus)

7

Proje

1

BM Sürdürülebilir Kalkınma Amaçları

SDG 3: AMAÇ 3: SAĞLIKLI BİREYLER

SDG 4: AMAÇ 4: NİTELİKLİ EĞİTİM