March 2018

Alpha-1-Antitrypsin Deficiency

AAT deficiency is one of the most common hereditary diseases. It reflects its symptoms with liver disease (elevated liver enzymes,...

Congenital Hearing Loss

A non-syndromic hearing loss (DFNB1) is a congenital and autosomal recessive disease. It can also be defined as a non-progressive...

Charcot-Marie-Tooth

Charcot-Marie-Tooth Nöropati Tip 1 (CMT1); distal kas zayıflığı ve atrofisi, sinir ileti hızında yavaşlama ile karakterize otozomal dominant bir demyelinizan...

Smith-Lemli-Opitz (SLOS)

Smith-Lemli-Opitz Syndrome (SLOS) is a cholesterol metabolic disorder caused by deficiency of 7-dehydrocholesterol (7-DHC) reductase enzyme. Patients show prenatal and...

Sialidosis (Mucolipidosis Type I)

Sialidosis (Neuraminidase-Mucolipidosis Type I ) is a lysosomal storage disease caused by insufficient neuraminidase enzyme. Patients are clinically categorized as...

Osteoprosis

Studies have revealed some polymorphisms related to reduction in bone mineral density (BMD) and fracture risk. Today, Collagen Type 1,...

Down Syndrome

Down syndrome(DS) is the most commonly observed chromosomal abnormality and occurrence frequency is one out of every 600-700 births. Since...

"The discovery of the structure of DNA transformed not only biology but also our understanding of what it means to be human."

Francis Crick