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Showing 1–4 of 4 results

Advanced filters: Author: Corinna Gebauer Clear advanced filters

Mutations in topoisomerase IIβ result in a B cell immunodeficiency

Topoisomerases are required to release topological stress on DNA during replication and transcription. Here, Broderick et al. report genetic variants in TOP2B that cause a syndromic B cell immunodeficiency associated with reduced TOP2B function, defects in B cell development and B cell activation.

Lori Broderick
Shawn Yost
Hal M. Hoffman
ResearchOpen Access13 Aug 2019
Nature Communications

Volume: 10, P: 1-15
FUT 2 polymorphism and outcome in very-low-birth-weight infants

Martin Demmert
Anne Schaper
Christoph Härtel
Research02 Feb 2015
Pediatric Research

Volume: 77, P: 586-590
Leptin in Maternal Serum and Breast Milk: Association With Infants' Body Weight Gain in a Longitudinal Study Over 6 Months of Lactation

Susanne Schuster
Charlotte Hechler
Juergen Kratzsch
Research01 Dec 2011
Pediatric Research

Volume: 70, P: 633-637
Surgical necrotizing enterocolitis but not spontaneous intestinal perforation is associated with adverse neurological outcome at school age

Alexander Humberg
Juliane Spiegler
Kristin Dawczynski
ResearchOpen Access11 Feb 2020
Scientific Reports

Volume: 10, P: 1-9