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Publications by Philip L. Beales
Novel Missense Variants in the RNF213 Gene From a European Family With Moyamoya Disease
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Related publications
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients
PLoS ONE
Multidisciplinary
Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease
Journal of the American Heart Association
Cardiovascular Medicine
Cardiology
Molecular Analysis of RNF213 Gene for Moyamoya Disease in the Chinese Han Population
PLoS ONE
Multidisciplinary
P.R4810K, a Polymorphism of RNF213, the Susceptibility Gene for Moyamoya Disease, Is Associated With Blood Pressure
Environmental Health and Preventive Medicine
Medicine
Environmental
Public Health
Occupational Health
A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma
Archives of Dermatology
Novel Missense Alteration in LRP4 Gene Underlies Cenani‐Lenz Syndactyly Syndrome in a Consanguineous Family
Journal of Gene Medicine
Molecular Medicine
Drug Discovery
Genetics
Molecular Biology
A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family
Brazilian Journal of Medical and Biological Research
Immunology
Cell Biology
Pharmacology
Biochemistry
Biophysics
Neuroscience
Medicine
Toxicology
Physiology
Pharmaceutics
Germline Missense Variants in the BTNL2 Gene Are Associated With Prostate Cancer Susceptibility
Cancer Epidemiology Biomarkers and Prevention
Medicine
Epidemiology
Oncology
Alternative Exon Skipping Biases Substrate Preference of the Deubiquitylase USP15 for Mysterin/Rnf213, the Moyamoya Disease Susceptibility Factor
Scientific Reports
Multidisciplinary
