Works by OZGUL, Rıza Köksal

Results: 22

SLCA29A3 gene defect in a patient with autoinflammatory disease and pure red blood cell aplasia: H syndrome.

Published in:

Turkish Journal of Immunology, 2016, v. 4, p. 54

By:

Ayvaz, Deniz Nazire Çağdaş;
Tezcan, Ilhan;
Köksal Özgül, Rıza;
Özen, Seza

Publication type:

Article

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 10, p. 675, doi. 10.1038/jhg.2013.76

By:

Özgül, Rıza Köksal;
Güzel-Ozantürk, Ayşegül;
Dündar, Halil;
Yücel-Yılmaz, Didem;
Coşkun, Turgay;
Sivri, Serap;
Aydoǧdu, Sultan;
Tokatlı, Ayşegül;
Dursun, Ali

Publication type:

Article

Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients.

Published in:

Ophthalmic Genetics, 2012, v. 33, n. 3, p. 144, doi. 10.3109/13816810.2012.660225

By:

Yücel, Didem;
Yılmaz, Murat;
Durukan, Ali Hakan;
Özgül, Rıza Köksal

Publication type:

Article

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings.

Published in:

Clinical Genetics, 2021, v. 100, n. 3, p. 308, doi. 10.1111/cge.14002

By:

Yıldız, Yılmaz;
Koşukcu, Can;
Aygün, Damla;
Akçaboy, Meltem;
Öztek Çelebi, Fatma Zehra;
Taşcı Yıldız, Yasemin;
Şahin, Gülseren;
Aytekin, Caner;
Yüksel, Deniz;
Lay, İncilay;
Özgül, Rıza Köksal;
Dursun, Ali

Publication type:

Article

Lysinuric protein intolerance: an overlooked diagnosis.

Published in:

Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s43042-020-00084-2

By:

Olgac, Asburce;
Yenicesu, Idil;
Ozgul, Rıza Köksal;
Biberoğlu, Gürsel;
Tümer, Leyla

Publication type:

Article

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63645

By:

Gürbüz, Berrak Bilginer;
Gülbakan, Basri;
Özgül, Rıza Köksal;
Yalnızoğlu, Dilek;
Yılmaz, Didem Yücel;
Göçmen, Rahşan;
Koşukcu, Can;
Kandemir, Nurgün;
Acar, Neşe Vardar;
Salih, Bekir;
Dursun, Ali

Publication type:

Article

Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.

Published in:

Turkish Journal of Pediatrics, 2021, v. 63, n. 4, p. 691, doi. 10.24953/turkjped.2021.04.017

By:

Gürbüz, Berrak Bilginer;
Yılmaz, Didem Yücel;
Özgül, Rıza Köksal;
Koşukcu, Can;
Dursun, Ali;
Sivri, Hatice Serap;
Coşkun, Turgay;
Tokatlı, Ayşegül

Publication type:

Article

Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 1, p. 19, doi. 10.24953/turkjped.2020.01.003

By:

Kılıç, Mustafa;
Ergüner, Bekir;
Koşukçu, Can;
Özgül, Rıza Köksal

Publication type:

Article

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

Published in:

Turkish Journal of Pediatrics, 2013, v. 55, n. 6, p. 633

By:

Kılıç, Mustafa;
Köksal Özgül, Rıza;
Dursun, Ali;
Tokatlı, Ayşegül;
Serap Kalkanoğlu-Sivri, Hatice;
Anlar, Banu;
Fowler, Brian;
Coşkun, Turgay

Publication type:

Article

Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report.

Published in:

2014

By:

Kılıç, Mustafa;
Kaymaz, Nazan;
Özgül, Rıza Köksal

Publication type:

Case Study

Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 4, p. 399, doi. 10.1515/jpem-2024-0366

By:

Akar, Halil Tuna;
Kahraman, Ayça Burcu;
Yıldız, Yılmaz;
Baran, Berat;
Çıkı, Kısmet;
Coşkun, Turgay;
Yücel Yılmaz, Didem;
Köksal Özgül, Rıza;
Hakan Aykan, Hayrettin;
Dursun, Ali;
Sivri, Serap;
Tokatlı, Ayşegül

Publication type:

Article

Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 3, p. 349, doi. 10.1515/jpem-2021-0441

By:

Düzçeker, Yasemin;
Pehlivantürk-Kızılkan, Melis;
Akgül, Sinem;
Özgül, Rıza Köksal;
Kanbur, Nuray;
Derman, Orhan

Publication type:

Article

Presentation of 14 alkaptonuria patients from Turkey.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 2, p. 289, doi. 10.1515/jpem-2019-0163

By:

Akbaba, Alper Ilker;
Ozgül, Rıza Köksal;
Dursun, Ali

Publication type:

Article

Five novel <italic>ALMS1</italic> gene mutations in six patients with Alström syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 6, p. 681, doi. 10.1515/jpem-2017-0418

By:

Kılınç, Suna;
Yücel-Yılmaz, Didem;
Ardagil, Aylin;
Apaydın, Süheyla;
Valverde, Diana;
Özgül, Rıza Köksal;
Güven, Ayla

Publication type:

Article

Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I.

Published in:

Turkish Journal of Medical Sciences, 2016, v. 46, n. 2, p. 404, doi. 10.3906/sag-1411-160

By:

ATÇEKEN, Nazente;
ÖZGÜL, Rıza Köksal;
YÜCEL YILMAZ, Didem;
TOKATLI, Ayşegül;
COŞKUN, Turgay;
SİVRİ, Hatice Serap;
DURSUN, Ali;
KARACA, Mehmet

Publication type:

Article

IDENTIFICATION OF HUB GENES AND KEY PATHWAYS BETWEEN CELIAC AND CROHN'S DISEASES VIA BIOINFORMATICS TOOLS.

Published in:

Periódico Tchê Química, 2022, v. 19, n. 41, p. 35, doi. 10.52571/PTQ.v19.n41.2022.04_GUL_pgs_35_47.pdf

By:

KOZALAK, Gül;
ATCEKEN, Nazente;
OZGUL, Rıza Köksal

Publication type:

Article

Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes.

Published in:

DNA & Cell Biology, 2014, v. 33, n. 12, p. 876, doi. 10.1089/dna.2014.2554

By:

Özgül, Rıza Köksal;
Yücel-Yılmaz, Didem;
Tarlan, Berçin;
Kıratlı, Hayyam

Publication type:

Article

Ailevi Hiperkolesterolemili Hastaların Mutasyon Analiz Sonuçlarının Simone-Broome Kriterleriyle Değerlendirilmesi.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2015, v. 9, n. 3, p. 176, doi. 10.12956/tjpd.2015.145

By:

AYKAN, Hayrettin Hakan;
ÖZGÜL, Rıza Köksal;
GÜZEL, Ayşegül;
COŞKUN, Turgay;
DURSUN, Ali

Publication type:

Article

An Unusual Case of Biotinidase Deficiency with Fingertip Desquamation.

Published in:

Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2021, v. 15, n. 3, p. 74, doi. 10.4103/tjd.tjd_34_21

By:

Olgaç, Asburçe;
Kilavuz, Sebile;
Kılıç, Mustafa;
Özgül, Rıza Köksal;
Kasapkara, Çiğdem Seher

Publication type:

Article

Phenotypic diversity in NAXE mutations.

Published in:

Neurological Sciences, 2025, v. 46, n. 6, p. 2819, doi. 10.1007/s10072-025-08006-z

By:

Solmaz, Ismail;
Yalnızoğlu, Dilek;
Dursun, Ali;
Çıkı, Kısmet;
Akar, Halil Tuna;
Özgül, Rıza Köksal;
Koşukçu, Can;
Sezer, Abdullah;
Çağdaş, Deniz;
Esenboğa, Saliha;
Özbek, Begüm;
Aygün, Damla;
Yılmaz, Didem Yücel;
Parlak, Şafak;
Göçmen, Rahşan;
Oğuz, Kader Karlı;
Anlar, Banu

Publication type:

Article

Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.

Published in:

Metabolic Brain Disease, 2019, v. 34, n. 5, p. 1487, doi. 10.1007/s11011-019-00455-8

By:

Kılıç, Mustafa;
Kasapkara, Çiğdem Seher;
Yılmaz, Didem Yücel;
Özgül, Rıza Köksal

Publication type:

Article

Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’.

Published in:

2018

By:

Kılıç, Mustafa;
Kılıç, Esra;
Yılmaz, Didem Yücel;
Özgül, Rıza Köksal

Publication type:

Letter to the Editor