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Orphanet Journal of Rare Diseases|March 6, 2022
Treating rare diseases with the cinema: Can popular movies enhance public understanding of rare diseases?Jan Domaradzki
Orphanet Journal of Rare Diseases|March 6, 2022
Musculoskeletal diseases in Marfan syndrome: a nationwide registry studyNiels H Andersen, Ellen-Margrethe Hauge, Thomas Baad-Hansen, et al.
Orphanet Journal of Rare Diseases|March 5, 2022
One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERNLaura Paneghetti, Cinzia Maria Bellettato, Annalisa Sechi, et al.
Orphanet Journal of Rare Diseases|March 5, 2022
Clinical classification, visual outcomes, and optical coherence tomographic features of 48 patients with posterior sympathetic ophthalmiaHong Zhuang, Rui Zhang, Ting Zhang, et al.
Orphanet Journal of Rare Diseases|May 26, 2018
Quality of care in cystic fibrosis: assessment protocol of the French QIP PHARE-MDominique Pougheon Bertrand, Emmanuel Nowak, Clémence Dehillotte, et al.
Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.
Orphanet Journal of Rare Diseases|May 27, 2018
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in TaiwanChih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from IndiaJayesh Sheth, Tejasvi Dhondekar, Manali Ajagekar, et al.
Orphanet Journal of Rare Diseases|September 3, 2025
Measurement of fatigue in sickle cell disease: a systematic review of fatigue measuresAlice Gourdin, Damien Oudin Doglioni, Michalina Dannoune, et al.
Orphanet Journal of Rare Diseases|April 15, 2010
Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case reportPedro Acién, Francisco Galán, Irene Manchón, et al.
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