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List of works by Jacques G Rivière

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

scientific article published on 01 October 2019

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

scientific article published on 31 January 2020

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

scientific article published on 22 October 2019

Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies

scientific article published on 15 April 2020

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain)

scientific article published on 30 October 2019

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

scientific article published on 16 October 2018

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

scientific article published on 27 December 2019

Multi-Inflammatory Syndrome in Children related to SARS-CoV-2 in Spain

scientific article published on 25 July 2020

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype

scientific article published on 19 January 2020

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

scientific article published on 12 February 2020

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