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Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

artículo científico publicado en 2018

Attitudes Toward Hypothetical Uses of Gene-Editing Technologies in Parents of People with Autosomal Aneuploidies

artículo científico publicado en 2019

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

artículo científico publicado en 2017

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

scientific article published on 08 July 2020

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences.

artículo científico publicado en 2018

Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report

scientific article published on 25 August 2020

Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment

scientific article published on 05 October 2019

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Reconstituting regulation of the canonical Wnt pathway by engineering a minimal β-catenin destruction machine.

artículo científico publicado en 2016

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives

artículo científico publicado en 2020

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

artículo científico publicado en 2020

The Miraprep: A Protocol that Uses a Miniprep Kit and Provides Maxiprep Yields.

artículo científico publicado en 2016

Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors

scientific article published on 07 November 2019

Treatment Strategies for Deficiency of Adenosine Deaminase 2

artículo científico publicado en 2019

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