Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability

por Kaya, Murat, Suer, İlknur, Öztürk, Şükrü, ÇEFLE, Kıvanç, Karaman, Birsen, Palanduz, Şükrü
Publicado 2019

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

por Karaman, Birsen, Kayserili, Hülya, Ghanbari, Asadollah, Uyguner, Zehra Oya, Toksoy, Güven, Altunoglu, Umut, Basaran, Seher
Publicado 2018

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome

por Turgut, G. Tutku, Kalelioglu, Ibrahim Halil, Karaman, Volkan, Sarac Sivrikoz, Tugba, Karaman, Birsen, Uyguner, Zehra Oya, Kalayci, Tugba
Publicado 2023

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies

por Basaran, Seher, Has, Recep, Kalelioglu, Ibrahim Halil, Sarac Sivrikoz, Tugba, Karaman, Birsen, Kirgiz, Melike, Dehgan, Tahir, Kalayci, Tugba, Ozsait Selcuk, Bilge, Miny, Peter, Yuksel, Atil
Publicado 2022

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

por Akcan, Neşe, Uyguner, Oya, Baş, Firdevs, Altunoğlu, Umut, Toksoy, Güven, Karaman, Birsen, Avcı, Şahin, Yavaş Abalı, Zehra, Poyrazoğlu, Şükran, Aghayev, Agharza, Karaman, Volkan, Bundak, Rüveyde, Başaran, Seher, Darendeliler, Feyza
Publicado 2022

A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutat...

por Kardelen, Aslı Derya, Toksoy, Güven, Baş, Firdevs, Yavaş Abalı, Zehra, Gençay, Genco, Poyrazoğlu, Şükran, Bundak, Rüveyde, Altunoğlu, Umut, Avcı, Şahin, Najaflı, Adam, Uyguner, Oya, Karaman, Birsen, Başaran, Seher, Darendeliler, Feyza
Publicado 2018

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

por Gedikbasi, Asuman, Toksoy, Guven, Karaca, Meryem, Gulec, Cagri, Balci, Mehmet Cihan, Gunes, Dilek, Gunes, Seda, Aslanger, Ayca Dilruba, Unverengil, Gokcen, Karaman, Birsen, Basaran, Seher, Demirkol, Mubeccel, Gokcay, Gulden Fatma, Uyguner, Zehra Oya
Publicado 2023

PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

por Kardelen, Aslı Derya, Najaflı, Adam, Baş, Firdevs, Karaman, Birsen, Toksoy, Güven, Poyrazoğlu, Şükran, Avcı, Şahin, Altunoğlu, Umut, Yavaş Abalı, Zehra, Öztürk, Ayşe Pınar, Karakılıç Özturan, Esin, Başaran, Seher, Darendeliler, Feyza, Uyguner, Z. Oya
Publicado 2023

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

por Theil, Arjan F, Pines, Alex, Kalayci, Tuğba, Heredia‐Genestar, José M, Raams, Anja, Rietveld, Marion H, Sridharan, Sriram, Tanis, Sabine EJ, Mulder, Klaas W, Büyükbabani, Nesimi, Karaman, Birsen, Uyguner, Zehra O, Kayserili, Hülya, Hoeijmakers, Jan HJ, Lans, Hannes, Demmers, Jeroen AA, Pothof, Joris, Altunoglu, Umut, El Ghalbzouri, Abdoelwaheb, Vermeulen, Wim
Publicado 2023