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Precision Health Database


Precision Health Database|Search|PHGKB

Rare Diseases

Last data update: Oct 02, 2023. (Total: 61664 Documents since 2012)
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Records 1 - 8 (of 8 Records)

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Genetic counseling for prion disease: Updates and best practices.
Goldman Jill S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Estimation of the number of inherited prion disease mutation carriers in the UK.
Corbie Rosie et al. European journal of human genetics : EJHG 2022
Human Prion Disease Surveillance in Washington State, 2006-2017.
Sánchez-González Liliana et al. JAMA network open 2020 Oct 3(10) e2020690
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
E Jones et al, Lancet Neurology, October 2020
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Jones Emma et al. The Lancet. Neurology 2020 Oct 19(10) 840-848
Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease.
Kang Yoon-Jung et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 Mar
The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients.
Gao Li-Ping et al. Scientific reports 2019 Feb 9(1) 1836
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.
Clift Kristin et al. Prion 2016 Nov 10(6) 502-506
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