Works by Özkaya, Beyhan

Results: 10

DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 4, p. 415, doi. 10.1515/jpem-2024-0510

By:

Yasar, Deniz;
Sezer, Abdullah;
Aytekin, Caner;
Karacan Küçükali, Gülin;
Özkaya Dönmez, Beyhan;
Araslı Yılmaz, Aslıhan;
Okur, İclal;
Sarıkaya Özdemir, Behiye;
Kurnaz, Erdal;
Keskin, Melikşah;
Savaş Erdeve, Şenay

Publication type:

Article

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 575, doi. 10.1515/jpem-2023-0551

By:

Kırkgöz, Tarık;
Gürsoy, Semra;
Acar, Sezer;
Köprülü, Özge;
Özkaya, Beyhan;
Arslan, Gülçin;
Nalbantoğlu, Özlem;
Hazan, Filiz;
Özkan, Behzat

Publication type:

Article

A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 11, p. 1481, doi. 10.1515/jpem-2021-0165

By:

Acar, Sezer;
Schlingmann, Karl Peter;
Nalbantoğlu, Özlem;
Köprülü, Özge;
Arslan, Gülçin;
Özkaya, Beyhan;
Özkan, Behzat

Publication type:

Article

Extensive Plexiform Neurofibroma Presenting as ID Clitoromegaly in Neurofibromatosis Type 1.

Published in:

Journal of Dr. Behcet Uz Children's Hospital, 2021, v. 11, n. 2, p. 215, doi. 10.5222/buchd.2021.84565

By:

Nalbantoğlu, Özlem;
Arslan, Gülçin;
Özkaya, Beyhan;
Genç, Sinan;
Özkan, Behzat

Publication type:

Article

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review.

Published in:

Journal of Pediatric Research, 2022, v. 9, n. 4, p. 401, doi. 10.4274/jpr.galenos.2022.36539

By:

Köprülü, Özge;
Acar, Sezer;
Erdoğan, Kadri Murat;
Nalbantoğlu, Özlem;
Kırkgöz, Tarık;
Arslan, Gülçin;
Özkaya, Beyhan;
Kutbay, Yaşar Bekir;
Özkan, Behzat

Publication type:

Article

A Rare Complication of Insulin Therapy in a Child with Newly Diagnosed Type 1 Diabetes: Insulin Edema.

Published in:

Journal of Pediatric Research, 2021, v. 8, n. 4, p. 506, doi. 10.4274/jpr.galenos.2021.65982

By:

Acar, Sezer;
Nalbantoğlu, Özlem;
Kırkgöz, Tarık;
Özkaya, Beyhan;
Erkan, Ömrüm;
Özkan, Behzat

Publication type:

Article

A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation.

Published in:

Journal of Pediatric Research, 2020, v. 7, n. 2, p. 168, doi. 10.4274/jpr.galenos.2019.36034

By:

Arslan, Gülçin;
Acar, Sezer;
Özdemir, Taha Reşid;
Nalbantoğlu, Özlem;
Kırbıyık, Özgür;
Köprülü, Özge;
Özkaya, Beyhan;
Özkan, Behzat

Publication type:

Article

Genel Pediatrist Gözü ile Lizozomal Lipid Depo Hastalıkları.

Published in:

Journal of Pediatric Research, 2016, v. 3, n. 2, p. 70, doi. 10.4274/jpr.43650

By:

Özkaya, Beyhan;
Erbaş Canda, Ebru;
Kalkan Uçar, Sema

Publication type:

Article

Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant.

Published in:

Gynecological Endocrinology, 2021, v. 37, n. 5, p. 476, doi. 10.1080/09513590.2021.1908253

By:

Acar, Sezer;
Nalbantoğlu, Özlem;
Gürsoy, Semra;
Özkaya, Beyhan;
Köprülü, Özge;
Arslan, Gülçin;
Hazan, Filiz;
Özkan, Behzat

Publication type:

Article

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.938814

By:

Kırkgöz, Tarık;
Özkan, Behzat;
Hazan, Filiz;
Acar, Sezer;
Nalbantoğlu, Özlem;
Özkaya, Beyhan;
Kulalı, Melike Ataseven;
Gürsoy, Semra;
Ikegawa, Shiro;
Guo, Long

Publication type:

Article