Connection

LISA EMRICK to Muscle Hypotonia

This is a "connection" page, showing publications LISA EMRICK has written about Muscle Hypotonia.
Connection Strength

0.186
  1. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87.
    View in: PubMed
    Score: 0.053
  2. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 01; 194(1):17-30.
    View in: PubMed
    Score: 0.051
  3. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 02; 43(2):266-282.
    View in: PubMed
    Score: 0.045
  4. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037.
    View in: PubMed
    Score: 0.037
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.