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A case of high-titer anti-D hemolytic disease of the newborn in which late onset and mild course is associated with the D variant, RHD-CE(9)-D.

artículo científico publicado en 2014

A novel ABO allele with a 21-bp duplication identified in two unrelated European individuals with weak A expression

artículo científico publicado en 2020

Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance

scientific article published on 04 September 2019

Association between neutropenia and IgG antineutrophil antibodies in a case of CD40LG deficiency due to two novel mutations

scientific article published on 25 December 2019

CD18 is redundant for the response to multiple vaccines: a case

artículo científico publicado en 2018

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

artículo científico publicado en 2017

Evidence of perturbed germinal center dynamics, but preserved antibody diversity, in end-stage renal disease.

artículo científico publicado en 2016

Genetic susceptibility to angiotensin-converting enzyme-inhibitor induced angioedema: A systematic review and evaluation of methodological approaches

artículo científico publicado en 2019

Hereditary angioedema: a mother diagnosing her child using Google as a diagnostic aid

artículo científico publicado en 2018

Immunodeficiency associated with a nonsense mutation of IKBKB.

artículo científico publicado en 2014

Infantile hemophagocytic lymphohistiocytosis in a case of chediak-higashi syndrome caused by a mutation in the LYST/CHS1 gene presenting with delayed umbilical cord detachment and diarrhea

artículo científico publicado en 2015

Next Generation Sequencing-Based Fetal ABO Blood Group Prediction by Analysis of Cell-Free DNA from Maternal Plasma

scientific article published on 16 January 2020

Results of noninvasive prenatal RHD testing in Gestation Week 25 are not affected by maternal body mass index

scientific article published on 04 September 2018

The use of next-generation sequencing for the determination of rare blood group genotypes.

artículo científico publicado en 2017

White blood cell mitochondrial DNA copy number is decreased in rheumatoid arthritis and linked with risk factors. A twin study

artículo científico publicado en 2018

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