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Pediatric Research (5)
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Showing 1–8 of 8 results

Advanced filters: Author: Lynette D Fairbanks Clear advanced filters

B-LYMPHOCYTES THYMOCYTES AND PLATELETS ACCUMULATE HIGH dATP LEVELS IN SIMULATED ADA DEFICIENCY: 69

Adela Goday
H Anne Simmonds
George S Morris
Research01 Jul 1985
Pediatric Research

Volume: 19, P: 755
USEFULNESS OF INTACT ERYTHROCYTE STUDIES IN THE DIAGNOSIS OF INHERITED PURINE AND PYRIMIDINE DEFECTS: 62

Lynette D Fairbanks
H Anne Simmonds
Diane R Webster
Research01 Jul 1985
Pediatric Research

Volume: 19, P: 754
CORRELATIONS BETWEEN PURINE LEVELS, CLINICAL AND.IMMUNOLOGICAL STATUS IN ADA DEFICIENCY: 192

H Anne Simmonds
Lynette D Fairbanks
Roland J Levinsky
Research01 Jul 1985
Pediatric Research

Volume: 19, P: 775
143 DeoxyGTP ACCUMULATES IN THYMOCYTES, BUT NOT IN T OR B LYMPHOCYTES IN SIMULATED PNP DEFICIENCY

H Anne Simmonds
Anna Taddeq
John A Duley
Research01 Jul 1988
Pediatric Research

Volume: 24, P: 135
ERYTHROCYTE GTP DEPLETION IN PNP DEFICIENCY PRESENTING WITH HAEMOLYTIC ANAEMIA AND HYPODRICAEMIA: 193

H Anne Simmonds
Lynette D Fairbanks
Peter Timms
Research01 Jul 1985
Pediatric Research

Volume: 19, P: 776
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

Xihao Li
Han Chen
Xihong Lin
Research07 Feb 2025
Nature Computational Science

Volume: 5, P: 125-143
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

Veronique Vitart
Igor Rudan
Alan F Wright
Research09 Mar 2008
Nature Genetics

Volume: 40, P: 437-442
Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy

Federico A. Moretti
Giuliana Giardino
H. Bobby Gaspar
ResearchOpen Access01 Dec 2021
Scientific Reports

Volume: 11, P: 1-17