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8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome?

artículo científico publicado en 2014

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

artículo científico publicado en 2016

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

scientific article published on 14 November 2019

Interventions for Post-Stroke Shoulder Pain: An Overview of Systematic Reviews

artículo científico publicado en 2020

On Clinical Utility and Systematic Reporting in Case Studies of Healthcare Process Mining

artículo científico publicado en 2020

Protein-losing enteropathy in a patient on ketogenic diet for limbic encephalitis--treatment effect or underlying pathology?

scientific article published on 23 February 2015

Sharing (data) is caring for patients with pachyonychia congenita

scientific article published on 20 January 2020

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