Generating and sharing valuable rare disease data via the GREGoR Consortium Read more about Generating and sharing valuable rare disease data via the GREGoR Consortium
BiallelicUGGT1gene variants cause a congenital disorder of glycosylation: Read more about BiallelicUGGT1gene variants cause a congenital disorder of glycosylation:
Driver project for advancing long-read de novo genome assembly methods in clinical research Read more about Driver project for advancing long-read de novo genome assembly methods in clinical research
Biallelic FLVCR1 variants cause a disease spectrum from adult neurodegeneration to severe neurodevelopmental disorders through disrupted choline transport Read more about Biallelic FLVCR1 variants cause a disease spectrum from adult neurodegeneration to severe neurodevelopmental disorders through disrupted choline transport
