Disease: Overfolded helix
- A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation
- Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in <em>RAD21</em> Detected through Very-High-Resolution Chromosomal Microarray Analysis
- Facial features in children with the 22q11 deletion syndrome
- Immature teratoma of the testis associated with Klinefelter's syndrome: a case report
- Multiple <em>de novo</em> gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms
- New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
- Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism