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Researchposted Apr 08, 2020
Diabetes in Patients with Ataxia telangiectasia: A National Cohort Study
Helena Donath, Ursula Hess, Matthias Kieslich, Marius Theis, Ute Ohlenschläger, Ralf Schubert, Sandra Wölke, and 1 more authors
Under Review
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Researchposted Apr 06, 2020
Randomized clinical trials in ANCA-associated vasculitis: a systematic analysis of the WHO - International Clinical Trials Registry Platform.
Michele IUDICI, Xavier Puéchal, Alejandro Brigante, Ignacio Atal, Cem Gabay
Under Review
at
Researchposted Apr 06, 2020
Exome sequencing identified a novel pathogenic RET variant with high variable expressivity and incomplete penetrance in an extended pedigree with Hirschsprung disease
Sahereh Rahnavard, maryam eghbali, hassan saei, bahar Ashjaei, maryam abiri
Under Review
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Researchposted Apr 06, 2020
Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approaches
Elena Nicod, Amanda Whittal, Mike Drummond, Karen Facey
Under Review
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Researchposted Apr 06, 2020
Longitudinal Cardiovascular Magnetic Resonance Imaging in Adults with Alström Syndrome: Silent Progression of Diffuse Interstitial Fibrosis.
Shanat Baig, Rory Dowd, Nicola C Edwards, James Hodson, Larissa Fabritz, Ravi Vijapurapu, Boyang Liu, and 2 more authors
Under Review
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Researchposted Apr 04, 2020
A Retrospective Review of the Contribution of Rare Diseases to Paediatric Mortality in Ireland
Emer Anne Gunne, Cliona McGarvey, Karina Hamilton, Eileen Treacy, Deborah Lambert, Sally Ann Lynch
Under Review
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Researchposted Apr 04, 2020
Rare musculoskeletal diseases in adults: a research priority setting partnership with The James Lind Alliance
Gerda Mickute, Kristina Staley, Heather Delaney, Oliver Gardiner, Amy Hunter, Richard Keen, Lorraine Lockhart, and 11 more authors
Under Review
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Researchupdated Apr 02, 2020
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
Yueheng Wu, Yu Xia, Ping Li, Hui-Qi Qu, Yichuan Liu, Yongchao Yang, Jijin Lin, and 13 more authors
accepted
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Researchposted Apr 01, 2020
Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
Takashi Hatano, Yuki ohno, YU Imai, Jun Moritake, Katsuhisa Endo, Mayumi Tamari, Shin Egawa
Under Review
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Researchposted Apr 01, 2020
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study
Annalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, Rita Frangiamore, Ramona De Amicis, Mauro Marzorati, Simone Porcelli, and 8 more authors
Under Review
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