Risultati della ricerca - Abdullah Sezer
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1
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
2
Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient
Pubblicazione 2025Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
3
Two New Families With TAF13 Variant Presenting With Syndromic 46, XY Disorder of Sex Development: Expanding the Clinical Phenotype
Pubblicazione 2025Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
4
ATP6V0A2 ‐Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant
Pubblicazione 2026Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
5
Multilocus Disease‐Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye
Pubblicazione 2025Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso