Search filters

List of works by Karin van Leeuwen

A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews

scientific article published on 13 January 2018

A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews

scientific article published on 23 July 2015

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

scientific article

An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection

scientific article published on 08 November 2018

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

scientific article published on 6 February 2018

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease

scientific article published on 26 April 2018

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients

scientific article published on 4 October 2016

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

scientific article

Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

scientific article published on 10 December 2016

Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains

scientific article

Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females

scientific article published on September 2017

Correction: Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains

scientific article published on 24 March 2010

Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease

scientific article

Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma

scientific article

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

scientific article

Hematologically important mutations: leukocyte adhesion deficiency (first update).

scientific article

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)

scientific article

Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils

scientific article published on 6 June 2017

Inherited p40phox deficiency differs from classic chronic granulomatous disease

scientific article published on 06 August 2018

Male X-chromosome Mosaicism leading to Carrier Phenotype and inheritance of Chronic Granulomatous Disease.

scientific article published on 2 February 2018

Mutation in an exonic splicing enhancer site causing chronic granulomatous disease

scientific article published on 18 August 2017

Presence of a high amount of stroma and downregulation of SMAD4 predict for worse survival for stage I-II colon cancer patients.

scientific article

Psychosocial factors and the grade of cervical intra-epithelial neoplasia: a semi-prospective study.

scientific article published in February 2004

Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67(phox)

scientific article published on June 2014

Paulina is supported by:

About Paulina

Help