Associated Papers
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Gootjes J et al.
European Journal of Human Genetics : Ejhg, 2004
Select a paper to view details