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Orphanet Journal of Rare Diseases|November 27, 2014
Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)Stéphane Jean, Louis Richer, Luc Laberge, et al.
Orphanet Journal of Rare Diseases|June 19, 2016
Improvement of sexual function in POEMS syndrome after combination therapy of Lenalidomide and dexamethasoneHongbo Yang, Xufei Huang, Qianqian Cai, et al.
Orphanet Journal of Rare Diseases|July 3, 2016
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onsetHaiming Yuan, Linhuan Huang, Xizi Hu, et al.
Orphanet Journal of Rare Diseases|June 16, 2016
Directions for new developments on statistical design and analysis of small population group trialsRalf-Dieter Hilgers, Kit Roes, Nigel Stallard, et al.
Orphanet Journal of Rare Diseases|February 26, 2016
The effect of long-term danazol treatment on haematological parameters in hereditary angioedemaKinga Viktória Kőhalmi, Nóra Veszeli, Zsuzsanna Zotter, et al.
Orphanet Journal of Rare Diseases|December 4, 2015
Prevalence, incidence, and age at diagnosis in Marfan SyndromeKristian A Groth, Hanne Hove, Kasper Kyhl, et al.
Orphanet Journal of Rare Diseases|December 4, 2015
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markersAglaia Vignoli, Francesca La Briola, Angela Peron, et al.
Orphanet Journal of Rare Diseases|December 6, 2014
Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper framesKarin S G Cunha, Rafaela E Rozza-de-Menezes, Raquel M Andrade, et al.
Orphanet Journal of Rare Diseases|December 19, 2014
Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in GermanyOlivia Schreiber-Katz, Constanze Klug, Simone Thiele, et al.
Orphanet Journal of Rare Diseases|December 21, 2014
Relapsing polychondritis: clinical presentations, disease activity and outcomesAman Sharma, Arjun Dutt Law, Pradeep Bambery, et al.
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