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Daniel R Carvalho
ORCID
Publication Activity (10 Years)
Years Active: 2020-2020
Publications (10 Years): 1
Top Topics
Intellectual Disability
Duchenne Muscular Dystrophy
Peripheral Blood
Top Venues
American journal of medical genetics. Part A
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This page only lists publications with an associated author ORCID identifier.
Publications
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Daniel R Carvalho
,
Carlos E Speck-Martins
,
Jaime M Brum
,
Carlos R Ferreira
,
Nara L M Sobreira
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
American journal of medical genetics. Part A
182 (7) (2020)