Genetic studies have been an important part of medical researches in recent years. These studies have become essential for the development of personalized treatment options and discovery of new drugs. The majority of these ...

Neurofibromatosis type 1 (NF1) is a common genetic disorder that affects skin and nervous system that is inherited in autosomal dominant trait. It occurs due to the mutations in NF1 gene. The most common Schwann cell ...

Autosomal recessive limb girdle muscular dystrophy (LGMD2) is clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of proximal muscles. Two siblings of a ...

Our study is performed as a qualitative study at Hacettepe University Hospital Ihsan Dogramaci Children's Hospital Pediatric Hematology Unit in order to determine adolescents, their parents and health care workers perceptions ...

Embryonic development of the skeletal muscle and injury repair share several molecular events such as the myogenic regulatory factors (MRFs) and paired-homeobox transcription factors. Myogenesis is a highly regulated complex ...

RNA-Seq is a recent and efficient technique that uses the capabilities of next-generation sequencing technology in characterizing and quantifying transcriptomes. This technique has revolutionized the gene-expression profiling ...

Limb-girdle muscle dystrophy (LGMD) is a clinically and genetically heterogeneous group of inherited muscle disorders characterized by progressive muscle degeneration predominantly in proximal muscles of shoulder and pelvic ...

The presence of thousands of gene data belonging to a few number of patients in genetic researches leads to problems in the use of classical statistical methods (linear regression analysis etc.). However, analysis of large ...

Steroid resistant nephrotic syndrome (SRNS), despite being a rare disease, is the second most common cause of end stage kidney failure in childhood and early adulthood. However the heterogeneity and rarity (<1%) of disease ...

Biobanks are the organizations where biological materials and associated personal information are collected, stored, processed and distributed in a particular systematic. Biobanks provide opportunity to easily obtain enough ...