Results 151 to 160 of about 23,223 (190)

Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact. [PDF]

open access: yesOrphanet J Rare Dis
Leon C   +25 more
europepmc   +1 more source

Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach. [PDF]

open access: yesAnn Lab Med
Park KS   +16 more
europepmc   +1 more source

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