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BMC Medical Genetics|November 23, 2016

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotypeFlorian Job, Shuji Mizumoto, Laurie Smith, et al.

Human Mutation|December 17, 2014

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.

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BMC Medical Genetics|November 23, 2016

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotypeFlorian Job, Shuji Mizumoto, Laurie Smith, et al.

Human Mutation|December 17, 2014

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.

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