Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

G. Utine

h-index 24 View on Semantic Scholar

We have 3 of 194 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 Open access Sep 2026

Recognizable clinical features of 1p36 deletion syndrome: Insights from a single-center cohort

Objective: 1p36 deletion syndrome is one of the most common contiguous gene deletion syndromes and is primarily characterized by a typical facial gestalt, as well as neurological problems and multisystemic involvement. This study presents the clinical findings of 17 patients with 1p36 deletion syndrome followed at a si...

G. Urel-Demir, Serap Ketenci-İşlek, G. Utine et al. · 0 citations
Open access Aug 2026

Recognizing Stuve-Wiedemann syndrome in childhood: clinical insights from 11 patients with founder and novel LIFR variants.

The high rate of consanguinity in Türkiye, together with the recurrent p.(Arg692Ter) variant in LIFR identified in multiple unrelated families, supports the possibility of a founder effect and suggests that the frequency of Stuve–Wiedemann syndrome in the population may be higher than expected.

Gizem Ürel Demir, Nazlı Büşra Açıkgöz, G. Utine et al. · 0 citations
Jul 2026

A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicing.

A homozygous synonymous NPR2 variant is identified in an individual with AMDM and aberrant splicing induced by a synonymous variant as a disease-causing mechanism affecting a core developmental signaling pathway is established.

N. B. Acikgoz, Hasan Basri Kılıç, Gizem Urel Demir 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.