Publications by authors named "Christopher M Richmond"

5Publications

Rapid Identification of Biallelic Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.

Mol Syndromol 2020 Feb 1;11(1):50-55. Epub 2020 Feb 1.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1159/000505886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109415PMC
February 2020

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.

Clin Genet 2020 03 14;97(3):516-520. Epub 2019 Nov 14.

Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/cge.13666DOI Listing
March 2020