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Orphanet Journal of Rare Diseases|March 27, 2024
Sonographic characteristics of diffuse sclerosing variant of papillary thyroid carcinoma with histopathological correlation: a preliminary studyWanying Li, Ying Wang, Luying Gao, et al.
Orphanet Journal of Rare Diseases|March 20, 2024
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemiaQiao Wang, Jia-Jia Chen, Li-Ya Wei, et al.
Orphanet Journal of Rare Diseases|March 15, 2024
Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland regionWendy Wagner, Tom A Doyle, Clair A Francomano, et al.
Orphanet Journal of Rare Diseases|March 11, 2024
Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis IIKaren S Yee, Sandy Lewis, Emily Evans, et al.
Orphanet Journal of Rare Diseases|March 13, 2024
Pilot study of the effectiveness of a telehealth group for improving peer relationships for adolescents with neurofibromatosis type 1Danielle M Glad, Sara K Pardej, Ellen Olszewski, et al.
Orphanet Journal of Rare Diseases|March 2, 2024
Increased prevalence of peripheral vestibular disorder among patients with Fabry diseaseTzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, et al.
Orphanet Journal of Rare Diseases|February 27, 2024
Trends in orphan medicinal products approvals in the European Union between 2010-2022Luísa Bouwman, Bruno Sepodes, Hubert Leufkens, et al.
Orphanet Journal of Rare Diseases|January 25, 2024
Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods studyGeorgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, et al.
Orphanet Journal of Rare Diseases|January 23, 2024
Safety and efficacy of ketorolac continuous infusion for multimodal analgesia of vaso-occlusive crisis in patients with sickle cell diseaseValeria Maria Pinto, Barbara Gianesin, Salvatore Sardo, et al.
Orphanet Journal of Rare Diseases|December 9, 2023
Association of preoperative retinal microcirculation and perioperative outcomes in patients undergoing congenital cardiac surgeryCong Li, Zhuoting Zhu, Haiyun Yuan, et al.
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