Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH 6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann and Katherine G. Meilleur Orphanet Journal of Rare Diseases 2018, 13:105 | Published on: 3 July 2018 Full Text | PDF RESEARCH Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases Alejandra González-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres and Carlos Cantú-Brito Orphanet Journal of Rare Diseases 2018, 13:107 | Published on: 3 July 2018 Full Text | PDF RESEARCH 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang and Xue Zhang Orphanet Journal of Rare Diseases 2018, 13:106 | Published on: 3 July 2018 Full Text | PDF

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