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Orphanet Journal of Rare Diseases|December 18, 2019
Histopathological features of condylar hyperplasia and condylar Osteochondroma: a comparison studyJingshuang Yu, Tong Yang, Jiewen Dai, et al.
Orphanet Journal of Rare Diseases|December 1, 2020
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypesNa Xu, Hui Lv, Tingting Yang, et al.
Orphanet Journal of Rare Diseases|December 1, 2020
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control studyCan Ficicioglu, Dena R Matalon, Nicole Luongo, et al.
Orphanet Journal of Rare Diseases|October 29, 2020
Parachute tricuspid valve: a systematic reviewShi-Min Yuan
Orphanet Journal of Rare Diseases|November 25, 2020
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Renata S Scalco, Alejandro Lucia, Alfredo Santalla, et al.
Orphanet Journal of Rare Diseases|November 26, 2020
Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communitiesG Hazan, E Hershkovitz, O Staretz-Chacham
Orphanet Journal of Rare Diseases|November 27, 2020
High output cardiac failure in 3 patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations, evaluation of treatmentLilian B Olsen, Anette D Kjeldsen, Mikael K Poulsen, et al.
Orphanet Journal of Rare Diseases|November 4, 2017
Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measuresThomas Morel, Stefan J Cano
Orphanet Journal of Rare Diseases|November 4, 2017
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegiaConceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, et al.
Orphanet Journal of Rare Diseases|January 23, 2020
Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patientsLili Yang, Qiong Zhou, Bo Ma, et al.
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