Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

por Ana Victoria Marco Hernández, Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez, Francisco Martinez
Publicado 2021

Prevalence of pathogenic copy number variants among children conceived by donor oocyte

por Sandra Monfort, Carmen Orellana, Silvestre Oltra, Mónica Rosello, Alfonso Caro-Llopis, Francisco Martinez
Publicado 2021