Search filters

List of works by Natalie Deuitch

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

scientific article published on 22 January 2018

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

scientific article published on 01 October 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

scientific article published on 23 May 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.

scientific article published on 14 June 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.

scientific article

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

scientific article published on 05 May 2020

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

scientific article published on 27 October 2020

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

scientific article

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

scientific article published on 01 April 2019

Paulina is supported by:

About Paulina

Help