Lista de obras - Marieke De Bruyne - Dominio Público Uruguay

A Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

artículo científico publicado en 2018

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

scientific article published on 21 October 2019

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

artículo científico publicado en 2017

A novel LRBA mutation presents with normal CTLA-4 and overactive Th17 immunity

artículo científico publicado en 2018

Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

scientific article published on 20 November 2019

Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19

artículo científico publicado en 2020

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

artículo científico publicado en 2017

GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner

artículo científico publicado en 2019

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

artículo científico publicado en 2015

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

artículo científico publicado en 2016

Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing Loss

artículo científico publicado en 2021

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene

artículo científico publicado en 2020

The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives ⬇️

artículo científico publicado en 2016

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.

artículo científico publicado en 2017

Lista de obras de Marieke De Bruyne

A Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

A novel LRBA mutation presents with normal CTLA-4 and overactive Th17 immunity

Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing Loss

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene

The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives ⬇️

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.