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List of works by Diogo C. Soares

CD4+CD25highFoxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis

article

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

scientific article published on May 2016

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome

scientific article published on 09 January 2019

Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome

scientific article published on 10 November 2016

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

scientific article published on 02 October 2014

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.

scientific article published on August 2017

NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene

article

Natural history of 39 patients with Achondroplasia.

scientific article published on 19 June 2018

Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure

scientific article published on 01 July 2018

Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance

scientific article published on 29 July 2019

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

scientific article

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