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Orphanet Journal of Rare Diseases|May 24, 2017
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)Maria Salomon-Estebanez, Zainab Mohamed, Maria Michaelidou, et al.
Orphanet Journal of Rare Diseases|May 25, 2017
Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcomaQuan Jiang, Han-Xing Tong, Ying-Yong Hou, et al.
Orphanet Journal of Rare Diseases|July 2, 2017
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databasesGeneviève Baujat, Rémy Choquet, Stéphane Bouée, et al.
Orphanet Journal of Rare Diseases|August 22, 2016
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 casesH Montaudié, C Chiaverini, E Sbidian, et al.
Orphanet Journal of Rare Diseases|June 1, 2017
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndromeYaping Liu, Zhiyan Xu, Ruie Feng, et al.
Orphanet Journal of Rare Diseases|April 12, 2018
GAD65 autoantibody characteristics in patients with co-occurring type 1 diabetes and epilepsy may help identify underlying epilepsy etiologiesSuvi Liimatainen, Jerome Honnorat, Sean J Pittock, et al.
Orphanet Journal of Rare Diseases|May 25, 2019
Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyteHyoung Soo Choi, Qute Choi, Jung-Ah Kim, et al.
Orphanet Journal of Rare Diseases|May 25, 2019
Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypesRobert J Pignolo, Geneviève Baujat, Matthew A Brown, et al.
Orphanet Journal of Rare Diseases|May 29, 2019
New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosisToshiya Nomura, Mitsuharu Ueda, Masayoshi Tasaki, et al.
Orphanet Journal of Rare Diseases|May 12, 2019
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trialSven Dittrich, Erika Graf, Regina Trollmann, et al.
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