Maria João Nabais Sá
Department of Human Genetics, Radboudumc
15 papers found
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De Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus
UploadDe Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
UploadGenomic imbalances defining novel intellectual disability associated loci
Download from link.springer.comDe novo and biallelic DEAF1 variants cause a phenotypic spectrum
UploadInfantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels
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