Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID) Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Vari ...
Intellectual Disability;Rubinstein-Taybi Syndrome;Cystic Fibrosis;Congenital Heart Defect;Periventricular Nodular Heterotopia;Neurodegeneration With Brain Iron Accumulation (NBIA);Albinism Intellectual Disability;Rubinstein-Taybi Syndrome;Cystic Fibrosis;Congenital Heart Defect;Periventri ...