Search Results - "Sözen Türk, Tuba"
-
1
Investigation of Androgen Receptor Gen Mutation Spectrum in the Turkish Patients with Disorder of Sex Development
Published in Journal of clinical research in pediatric endocrinology (01-06-2017)“…Androgen insensitivity syndrome (AIS) is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in…”
Get full text
Journal Article -
2
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey
Published in Turkish journal of medical sciences (30-08-2021)“…Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used…”
Get full text
Journal Article -
3
Experiences in the molecular genetic and histopathological evaluation of calpainopathies
Published in Neurogenetics (01-04-2022)“…Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is…”
Get full text
Journal Article -
4