Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Alanna Koehler

1-3 of 3 results

View this query on the Wikidata Query Service
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

scientific article
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

scientific article published on 11 June 2015
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

scientific article published in Nature Communications

Paulina is supported by:

About Paulina

Help