Concepedia

JM van Montfrans

JV

3

Publications

55

Citations

3

H-Index

2014

Active since

Affiliations

University Medical Center Utrecht(Current)

Radboud University Nijmegen

Amsterdam UMC Location University of Amsterdam

University Medical Center Groningen

JM van Montfrans is an author at University Medical Center Utrecht specializing in autoimmune disease, molecular diagnostic techniques, and immunohematology.

Top concepts

Publications per year

2014–2020

3

Publications

3

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

JM van Montfrans, Esther A R Hartman, Kees P. J. Braun et al. · Pediatric Rheumatology · 2015 · 24 citations · Full text

Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.

Gijs T. J. van Well, Benjamin Kant, Sema Sırma Ekmekçi et al. · PubMed · 2020 · 17 citations

The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Ellen Schatorjé, Benjamin Gathmann, Roeland van Hout et al. · Clinical & Experimental Immunology · 2014 · 14 citations · Full text

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