Skip to content
Log in
Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Abdullah Sezer

h-index 2 View on Semantic Scholar

We have 5 of 14 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Review Sep 2026

Multisystemic Clues and Diagnostic Gaps: A Comparative Analysis of Pediatric Congenital Disorders of Glycosylation Patients.

BACKGROUND Congenital disorders of glycosylation (CDG) comprise a diverse group of rare inherited metabolic diseases caused by defects in glycan biosynthesis and processing. Since glycoconjugates play a critical role in development and cellular integrity, disruptions in glycosylation can result in a wide range of multi...

Sabire Gökalp, H. Akar, E. Aktaşoğlu et al. · 0 citations
Open access Sep 2026

A case of Krabbe disease presenting with hydrocephalus

Krabbe disease, or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by deficiency of galactocerebrosidase (GALC) enzyme activity. While classic infantile presentation typically includes irritability, spasticity, and developmental regression, this report describes an atypical...

Harun Yıldız, Abdullah Sezer, A. Olgaç · 0 citations
Open access Sep 2026

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance

The findings provide robust evidence for familial transmission with reduced penetrance, emphasizing the necessity of family-based genetic counseling and parental testing, even when evaluating apparently asymptomatic individuals.

Ahmet Kablan, Abdullah Sezer, Atakan Deniz et al. · 0 citations
Aug 2026

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

This case broadens the mutational spectrum of YIF1B-related disease and highlights the distinctive clinical pattern of KABAMAS, with an 11-month-old Turkish girl with profound developmental delay, absent head control, poor feeding, laryngomalacia and cortical visual impairment.

Sabire Gokalp, A. Olgaç, Fehime Erdem Karapinar et al. · 0 citations
Aug 2026

Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

Findings support a dose-dependent SLC20A2 disease spectrum and expand the phenotype associated with biallelic loss of function from primary brain calcification toward severe early-onset neurodevelopmental disorder with prominent vascular and leptomeningeal calcification.

Mehmet Burak Mutlu, Abdullah Sezer, Elif Özdemir et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.