Rıza Köksal Özgül

7PUBLICATIONS
61CO-AUTHORS
Developmental genetics (incl. sex determination)Medical biochemistry - proteins and peptides (incl. medical proteomics)Infant and child healthChemical thermodynamics and energeticsPaediatrics not elsewhere classified
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Publications (7)

|Jan 14, 2026
A transposase-derived gene required for human brain development.

Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez

|Feb 15, 2025
Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Halil Tuna Akar, Ayça Burcu Kahraman, Yılmaz Yıldız

|May 06, 2024
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül

|May 20, 2021
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.

Kısmet Çıkı, Yılmaz Yıldız, Didem Yücel Yılmaz

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