Genotype-phenotype studies in patients with Hypotonia Infantile with Psychomotor...

Molecular studies in autossomal recessive hearing loss

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

Comparison of clinical heterogeneity among carriers with genetic imbalance on 22q11.2...

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

Functional assessment of human embryos donated for research: viability, morphological...

Investigation of extreme skewing of X-chromosome inactivation in women with idiopathic...

Clinical data for interpretation of secondary genomic findings in elderly people...

Early diagnosis of Prader-Willi syndrome in hypotonic neonates

Study of genetic heterogeneity of deafness by next-generation sequencing