Scientific Publications

6 September 2021

SNORD116 Deletions Cause All Features of Prader-Willi Syndrome

6 September 2021

A fetus With Inherited 22q11.2 Deletion And Importance Of Genetic Counseling

6 September 2021

[PS-17] A new ABCC8 gene mutation; Could it be MODY type 12?

31 December 2021

Stress-induced childhood onset neurodegeneration with ataxia and seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two turkish patients