Tatjana Hirschmugl

Department Of Pediatrics And Adolescent Medicine And St Anna Kinderspital And Children's Cancer Research Institute
Vienna, Austria

Last Updated: 09/26/2026

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Found 17 publications

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Journal: Scandinavian journal of immunology

Published: September 08, 2021

The tubulin code in mammalian sperm development and function.

The tubulin code in mammalian sperm development and function.

Journal: Seminars in cell & developmental biology

Published: August 24, 2021

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

Journal: The Journal of allergy and clinical immunology

Published: July 08, 2019

RAF dimers control vascular permeability and cytoskeletal rearrangements at endothelial cell-cell junctions.

RAF dimers control vascular permeability and cytoskeletal rearrangements at endothelial cell-cell junctions.

Journal: The FEBS journal

Published: September 20, 2018

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.

Journal: British journal of haematology

Published: January 06, 2018

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.

Journal: Allergologia et immunopathologia

Published: December 27, 2017

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.

Journal: Blood

Published: September 15, 2017

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.

Journal: Klinische Padiatrie

Published: June 01, 2017

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

Journal: Nucleic acids research

Published: February 28, 2017

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.

Journal: Scandinavian journal of immunology

Published: December 05, 2016

LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

Journal: Acta medica Iranica

Published: October 19, 2016

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.

Journal: Case reports in immunology

Published: May 25, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026