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Identification of symbol digit modality test score extremes in Huntington's disease.
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
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Jung-Kc K, Himmelreich N, Prestegård KS, Shi TS, Scherer T, Ying M, Jorge-Finnigan A, Thöny B, Blau N, Martinez A.
Jung-Kc K, et al.
Hum Mutat. 2019 Apr;40(4):483-494. doi: 10.1002/humu.23712. Epub 2019 Feb 6.
Hum Mutat. 2019.
PMID: 30667134
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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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