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Orphanet Journal of Rare Diseases|August 22, 2020
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive updateMorten Krogh Herlin, Michael Bjørn Petersen, Mats Brännström
Orphanet Journal of Rare Diseases|May 3, 2023
Objective measurement of oral function in adults with spinal muscular atrophyT Kruse, S Shamai, D Leflerovà, et al.
Orphanet Journal of Rare Diseases|April 28, 2023
Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in CyprusVictoria Antoniadou, Adamos Hadjipanayis
Orphanet Journal of Rare Diseases|May 24, 2023
Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centersSebastian Zimny, Hélène Bourhis, Sabine Weber, et al.
Orphanet Journal of Rare Diseases|April 19, 2023
Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patientsAnne Morice, Maxime Taverne, Sophie Eché, et al.
Orphanet Journal of Rare Diseases|May 10, 2023
The serum levels of activin A and bone morphogenetic protein-4 and -6 in patients with fibrodysplasia ossificans progressivaZhengqin Ye, Siyi Wang, Chang Shan, et al.
Orphanet Journal of Rare Diseases|April 30, 2023
French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromesMatthieu Groh, Julien Rohmer, Nicolas Etienne, et al.
Orphanet Journal of Rare Diseases|May 2, 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continuedSimone Schröder, Gökhan Yigit, Yun Li, et al.
Orphanet Journal of Rare Diseases|May 26, 2023
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenitaWanqi Zheng, Ying Duan, Yu Xia, et al.
Orphanet Journal of Rare Diseases|July 10, 2020
A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosisTeresa Coelho, David Adams, Isabel Conceição, et al.
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