V. Karaman

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene

S. Poyrazoglu, F. Baş, F. Darendeliler, 2018, The Journal of Steroid Biochemistry and Molecular Biology.

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

S. Poyrazoglu, F. Baş, F. Darendeliler, 2022, Journal of clinical research in pediatric endocrinology.

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

B. Tüysüz, H. Kayserili, Z. Bayramoğlu, 2021, American journal of medical genetics. Part A.

Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

H. Kayserili, Elif Yilmaz Gulec, A. Gezdirici, 2022, Clinical genetics.

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

H. Kayserili, G. Nishimura, U. Altunoğlu, 2022, Prenatal diagnosis.

Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?

H. Tozkır, V. Ulker, C. Numanoğlu, 2013, European journal of obstetrics, gynecology, and reproductive biology.

Idiopathic angioedema with F12 mutation: is it a new entity?

G. Toksoy, S. Büyüköztürk, Z. Uyguner, 2015, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

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

B. Karaman, Z. Uyguner, T. Sarac Sivrikoz, 2022, Molecular Syndromology.