Rıza Köksal Özgül (R Köksal Özgül)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 7

Top Topics

Intellectual Disability

High Resolution Mass Spectrometry

Top Venues

American journal of medical genetics. Part A

Metabolic brain disease

Journal of cell science

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Selda Ayhan, Emirhan Nemutlu, Duygu Çetinkaya, Sedef Kır, Rıza Köksal Özgül
Characterization of human bone marrow niches with metabolome and transcriptome profiling. Journal of cell science 134 (6) (2021)
Yilmaz Yildiz, Can Koşukcu, Damla Aygün, Meltem Akcaboy, Fatma Zehra Oztek Celebi, Yasemin Tasci Yildiz, Gulseren Sahin, Caner Aytekin, Deniz Yüksel, İncilay Lay, Rıza Köksal Özgül, Ali Dursun
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings. Clinical genetics 100 (3) (2021)
Kismet Çıkı, Yilmaz Yildiz, Didem Yücel Yılmaz, Emine Pektaş, Ayşegül Tokatlı, Rıza Köksal Özgül, Hatice Serap Sivri, Ali Dursun
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant. Metabolic brain disease 36 (6) (2021)