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Lista de obras de Clara Franco Jarava

Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.

artículo científico publicado en 2016

Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease

artículo científico publicado en 2017

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations

artículo científico publicado en 2017

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

Extended immunophenotyping reference values in a healthy pediatric population

artículo científico publicado en 2018

Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia

artículo científico publicado en 2021

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

artículo científico publicado en 2018

Novel Mutations Causing C5 Deficiency in Three North-African Families.

artículo científico publicado en 2016

Serum IL-10 Levels and Its Relationship with Parasitemia in Chronic Chagas Disease Patients

artículo científico publicado en 2020

Serum protein electrophoresis and complement deficiencies: a veteran but very versatile test in clinical laboratories

artículo científico publicado en 2019

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

artículo científico publicado en 2018

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations

scientific article published on 29 July 2018

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

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

article

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