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Clinical and research strategies for limb-girdle congenital myasthenic syndromes.
Ann N Y Acad Sci. 2018 Jan;1412(1):102-112. doi: 10.1111/nyas.13520. Epub 2018 Jan 5.
Ann N Y Acad Sci. 2018.
PMID: 29315608
Review.
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.
Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.
Lochmüller H, et al.
Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.
Eur J Hum Genet. 2018.
PMID: 29487416
Free PMC article.
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