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Orphanet Journal of Rare Diseases|July 31, 2021
Mature B cell acute lymphoblastic leukaemia with KMT2A-MLLT3 transcripts in children: three case reports and literature reviewsYinghui Cui, Min Zhou, Pinli Zou, et al.
Orphanet Journal of Rare Diseases|March 22, 2013
SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in EuropeNathalie Kayadjanian, Arthur Burghes, Richard S Finkel, et al.
Orphanet Journal of Rare Diseases|May 16, 2013
Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-NetMichael Girschikofsky, Maurizio Arico, Diego Castillo, et al.
Orphanet Journal of Rare Diseases|April 4, 2013
Differences between sporadic and MEN related primary hyperparathyroidism; clinical expression, preoperative workup, operative strategy and follow-upBas A Twigt, Anouk Scholten, Gerlof D Valk, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Olmsted syndrome: exploration of the immunological phenotypeDina Danso-Abeam, Jianguo Zhang, James Dooley, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Orphanet Journal of Rare Diseases|May 2, 2013
Clinicopathological study of glomerular diseases associated with sarcoidosis: a multicenter studyThomas Stehlé, Dominique Joly, Philippe Vanhille, et al.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
Orphanet Journal of Rare Diseases|December 12, 2012
COG5-CDG: expanding the clinical spectrumDaisy Rymen, Liesbeth Keldermans, Valérie Race, et al.
Orphanet Journal of Rare Diseases|December 19, 2012
KL-6, a Human MUC1 Mucin, as a prognostic marker for diffuse alveolar hemorrhage syndromeYoshiko Kida, Shinichiro Ohshimo, Kohei Ota, et al.
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