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 basis of vertebral segmentation defects: genetic and clinical study focused...

X-linked intellectual disability: study of sibships with two or more affected brothers...

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...

Syndromic intellectual disability diagnosis by next-generation sequencing in consanguineous...

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