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Lista de obras de 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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