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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network
October 01, 2020
Article
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
August 01, 2020
Article
Novel approaches to quantify CNS involvement in children with Pompe disease
August 11, 2020
Article
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
March 01, 2020