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