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Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Hum Mutat. 2019 Apr;40(4):483-494. doi: 10.1002/humu.23712. Epub 2019 Feb 6.
Hum Mutat. 2019.
PMID: 30667134
Identification of symbol digit modality test score extremes in Huntington's disease.
Braisch U, Muche R, Rothenbacher D, Landwehrmeyer GB, Long JD, Orth M; REGISTRY Investigators of the European Huntington's Disease Network and COHORT Investigators of the Huntington Study Group.
Braisch U, et al.
Am J Med Genet B Neuropsychiatr Genet. 2019 Apr;180(3):232-245. doi: 10.1002/ajmg.b.32719. Epub 2019 Feb 20.
Am J Med Genet B Neuropsychiatr Genet. 2019.
PMID: 30788902
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An ontological foundation for ocular phenotypes and rare eye diseases.
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group.
Sergouniotis PI, et al.
Orphanet J Rare Dis. 2019 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6.
Orphanet J Rare Dis. 2019.
PMID: 30626441
Free PMC article.
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