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Orphanet Journal of Rare Diseases|February 15, 2019
Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysisMin Li, Ying Zhou, Chaoyang Chen, et al.
Orphanet Journal of Rare Diseases|November 6, 2009
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsLaura Bernardini, Stefania Gimelli, Cristina Gervasini, et al.
Orphanet Journal of Rare Diseases|October 28, 2022
Sanfilippo syndrome: consensus guidelines for clinical careNicole Muschol, Roberto Giugliani, Simon A Jones, et al.
Orphanet Journal of Rare Diseases|October 28, 2022
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channelJia Chen, Hong Li, Sicheng Guo, et al.
Orphanet Journal of Rare Diseases|October 29, 2022
Lung and chest wall volume during vital capacity manoeuvre in Osteogenesis ImperfectaAntonella LoMauro, Davide Lacca, Vittorio Landoni, et al.
Orphanet Journal of Rare Diseases|October 17, 2022
Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic reviewMarina Cerezo-Cayuelas, Amparo Pérez-Silva, Clara Serna-Muñoz, et al.
Orphanet Journal of Rare Diseases|June 12, 2025
Household costs in the United States for accommodating functional impairments associated with Duchenne muscular dystrophy: results from a caregiver surveyBryan Innis, John Jarvis, Taylor Renteria, et al.
Orphanet Journal of Rare Diseases|June 11, 2025
Patients with suspected pulmonary hypertension based on echocardiography in Behçet's disease: a 5-year follow-up studyMustafa Ekici, Alper Sarı, Berkan Armağan, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Liver transplantation in Wilson disease: a single-center experienceZahra Beyzaei, Kiana Ghatei, Alireza Shamsaeefar, et al.
Orphanet Journal of Rare Diseases|June 16, 2025
Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the USEric Wallace, Dawn Laney, Ibrahim Warsi, et al.
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