Search filters

List of works by Ortal Barel

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

scientific article

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3

scientific article published on 14 September 2020

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene

scientific article published on 11 April 2020

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

scientific article published on March 2017

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

scientific article published on 10 November 2017

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

scientific article

Helper T cell immunity in humans with inherited CD4 deficiency

scientific article published in 2024

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

scientific article published on 01 March 2021

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

scientific article published on 18 July 2016

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

scientific article published on 29 April 2019

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

scientific article published on 17 July 2019

Somatic NRAS mutation in patient with generalized lymphatic anomaly

scientific article published on 3 February 2018

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

scientific article published on 03 March 2020

Paulina is supported by:

About Paulina

Help