Kanjee, Momen

A decade of insights: prenatal cytogenetic diagnosis results of high-risk pregnancies at Ataturk University Medical Genetics laboratory (ATAGEN)

A case of Perrault syndrome with a novel variant diagnosed at a late stage with predominance of neurological findings

A case of Perrault syndrome with a novel variant diagnosed at a late stage with predominance of neurological findings.

Whole Exome Sequencing in Neurodevelopmental Disorders: A Single Center Study

Novel finding in a patient with 17p13.1 deletion syndrome: a case report

A new case of Turnpenny-Fry syndrome

A Novel nonsense variant in the <i>CDH2</i> gene associated with ACOGS: A case report