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Orphanet Journal of Rare Diseases|December 14, 2011
Type 1 autoimmune pancreatitisYoh Zen, Dimitrios P Bogdanos, Shigeyuki Kawa
Orphanet Journal of Rare Diseases|January 27, 2012
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseasesIsabelle Audo, Kinga M Bujakowska, Thierry Léveillard, et al.
Orphanet Journal of Rare Diseases|March 1, 2012
Nijmegen breakage syndrome (NBS)Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, et al.
Orphanet Journal of Rare Diseases|September 17, 2008
Monitoring clinical quality in rare disease services--experience in EnglandThomas D Kenny, Edmund G Jessop, William H Gutteridge
Orphanet Journal of Rare Diseases|February 17, 2022
Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart reviewAldona Pietrzak, Bartlomiej Wawrzycki, Matthias Schmuth, et al.
Orphanet Journal of Rare Diseases|February 17, 2022
Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clueElisabetta Indelicato, Michael Zech, Matthias Amprosi, et al.
Orphanet Journal of Rare Diseases|September 26, 2021
Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreementBob Stevens, Tom Kenny, Sophie Thomas, et al.
Orphanet Journal of Rare Diseases|September 27, 2021
Clinical features of lupus enteritis: a single-center retrospective studyLong Chen, Qin He, Man Luo, et al.
Orphanet Journal of Rare Diseases|June 20, 2019
Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal developmentHeloisa Vieira Prado, Natália Cristina Ruy Carneiro, Matheus França Perazzo, et al.
Orphanet Journal of Rare Diseases|June 21, 2019
Ovarian primary primitive neuroectodermal tumor: a review of cases at PUMCH and in the published literatureXiaopei Chao, Yalan Bi, Lei Li
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