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Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) which is an autosomal recessive inherited disease and characterized by short term repetitive severe abdominal pain...

Beta thalassemia (Mediterranean anemia)

Beta thalassemia is a very common type of blood disease seen in Turkey as well as other mediterranean countries. Although...

Sickle Cell Anemia

Sickle Cell Anemia is a kind of typical blood disease showing autosomal recessive character and it can be characterized by...

Alpha Thalassemia

Alpha thalassemia has clinically 2 significant forms. These are Bart hydrops fotalis hemoglobin (Hb Bart) syndrome and hemoglobin H (HBH)...

Cystic Fibrosis

Cystic fibrosis is an autosomal recessive disease which is characterized by observed elevation in the sweat chloride concentration via evidences...

DMD / BMD Muscular Diseases

Duchenne / Becker Muscular Dystrophy (DMD / BMD) which is characterized by progressive muscle weakness and atrophy, caused by mutations...

Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA) is clinically characterized by progressive muscle weakness depending upon the degeneration in the anterior horn cells...

Frajil X Sendrome

Fragile X syndrome is the most common form of inherited mental retardation. Incidence frequency is 1/1200 in males and 1/2500...

Rett Syndrome

Rett Syndrome is an X-linked autosomal disease and clinical signs vary according to the gender. The disease may follow a...

Achondroplasia

Achondroplasia and Hypochondroplasia which are the most common reasons of hereditary dwarfism , caused by mutations in FGFR3 gene. The...

"The most amazing thing about us is not just the protein-coding parts of our genomes but the vast regions of DNA that lie outside those parts."

James Watson