Outputs for NIH Office of the Director

1 June 2018 - 31 May 2019

United States of America (USA)

Region: Global

Sector: All

Subject/journal group: All

The research outputs below are grouped by journal. Click on the journal to view the list of articles.

Journal AC FC
American Journal of Human Genetics 3 0.53
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
2019-05-29
0.18
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
2019-03-07
0.11
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
2018-11-01
0.24

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