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Orphanet Journal of Rare Diseases|February 13, 2019
Functional exercise capacity, strength, balance and motion reaction time in Barth syndromeBrittany Hornby, Rebecca McClellan, Lucy Buckley, et al.
Orphanet Journal of Rare Diseases|January 31, 2019
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot studyLaura L Tosi, Marianne K Floor, Christina M Dollar, et al.
Orphanet Journal of Rare Diseases|January 9, 2019
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese populationRai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, et al.
Orphanet Journal of Rare Diseases|January 9, 2019
Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung diseaseGunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, et al.
Orphanet Journal of Rare Diseases|January 9, 2019
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry diseaseWladimir Mauhin, Olivier Lidove, Olivier Benveniste
Orphanet Journal of Rare Diseases|March 17, 2018
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotypeAdel Shalata, Mohammad Mahroom, Dianna M Milewicz, et al.
Orphanet Journal of Rare Diseases|December 14, 2018
Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatmentAnna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska, et al.
Orphanet Journal of Rare Diseases|December 19, 2018
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported casesXiaobei Guo, Keqiang Liu, Yaping Liu, et al.
Orphanet Journal of Rare Diseases|November 28, 2018
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic eraRachel Thompson, Angela Abicht, David Beeson, et al.
Orphanet Journal of Rare Diseases|January 24, 2020
Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of ageXiaolei Tang, Huimin Li, Hui Liu, et al.
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