Genetics of keratoconus: Genetical and molecular study of a Brazilian family

Study of genes and genetic variants associated with familial breast cancer: impacts...

Early diagnosis of Prader-Willi syndrome in hypotonic neonates

Study of genetic heterogeneity of deafness by next-generation sequencing

Autism spectrum disorders in FMR1 premutation carriers

Genetic and clinical study of patients with progerioid syndromes

Clinical and genetic investigation of ataxia with vitamin E deficiency (AVED), a...

From top to bottom: genetic counseling in families ascertained through fragile X-associated...

Myotubular myopathy: molecular diagnosis and genetic counselling in Brazilian fa...

Next generation sequencing and its application on the genetic study of Waardenburg...