E-LIB Suche - Ergebnisse für: Tuijnenburg, P

1

Whole-genome sequencing of a sporadic primary immunodeficie..:

Thaventhiran, JED ; Lango Allen, H ; Burren, OS...
doi:10.1038/s41586-020-2265-1. , 2020

2

Characterization of the clinical and immunologic phenotype ..:

Lorenzini, T ; Fliegauf, M ; Klammer, N...
https://discovery.ucl.ac.uk/id/eprint/10105992/1/Characterization%20of%20the%20clinical%20and%20immunological%20phenotype%20and%20management%20of%20157%20individuals%20with%2056%20distinct%20heterozygous%20NFKB1%20mutations.pdf. , 2020

Link: https://discovery.ucl.ac..

3

Characterization of the Clinical and Immunologic Phenotype ..:

Lorenzini, T ; Fliegauf, M ; Klammer, N...
J Allergy Clin Immunol. 2020;146(4):901-911. , 2020

Link: http://hdl.handle.net/10..

4

Whole-genome sequencing of a sporadic primary immunodeficie..:

Thaventhiran, JED ; Lango Allen, H ; Burren, OS...
https://discovery.ucl.ac.uk/id/eprint/10100106/1/PID_Nature_accepted_merged.pdf. , 2020

Link: https://discovery.ucl.ac..

5

A combined immunodeficiency with severe infections, inflamm..:

Volpi, S ; Cicalese, MP ; Tuijnenburg, P...
https://openaccess.sgul.ac.uk/id/eprint/110680/1/1-s2.0-S0091674919302064-main.pdf. , 2019

Link: https://openaccess.sgul...

6

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635..:

Tuijnenburg, P ; Allen, HL ; de Bree, GJ...
https://eprints.whiterose.ac.uk/145002/7/1-s2.0-S1521661618305904-main.pdf. , 2019

Link: https://eprints.whiteros..

7

Loss-of-function nuclear factor κB subunit 1 (NFKB1) varian..:

Tuijnenburg, P ; Lango Allen, H ; Burns, SO...
https://eprints.whiterose.ac.uk/136176/7/1-s2.0-S0091674918302860-main.pdf. , 2018

Link: https://eprints.whiteros..

8

Loss of function NFKB1 variants are the most common monogen..:

Tuijnenburg, P ; Lango Allen, H ; Burns, SO...
https://discovery.ucl.ac.uk/id/eprint/10044633/7/Bacchelli%20VoR%201-s2.0-S0091674918302860-main.pdf. , 2018

Link: https://discovery.ucl.ac..

9

Loss-of-function nuclear factor κB subunit 1 (NFKB1) varian..:

Tuijnenburg, P ; Lango Allen, H ; Burns, S.O...
https://eprints.whiterose.ac.uk/132993/1/1-s2.0-S0091674918302860-main.pdf. , 2018

Link: https://eprints.whiteros..

10

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Sy..:

Oud, MM ; Tuijnenburg, P ; Hempel, M...
https://discovery.ucl.ac.uk/id/eprint/1541039/1/Williams_EXTL3_Manuscript.pdf. , 2017

Link: https://discovery.ucl.ac..

11

Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia sy..:

Oud, M.M ; Tuijnenburg, P ; Hempel, M...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.01.013. , 2017

Link: https://push-zb.helmholt..

12

Safe biotechnology (5). Recommendations for safe work with ..:

Frommer, W. ; Archer, L. ; Boon, B....
Applied Microbiology and Biotechnology. 39 (1993) 2 - p. 141-147 , 1993

Link: https://doi.org/10.1007/..

13

Safe biotechnology: III. Safety precautions for handling mi..:

Frommer, W. ; Ager, B. ; Archer, L....
Applied Microbiology and Biotechnology. 30 (1989) 6 - p. 541-552 , 1989

Link: https://doi.org/10.1007/..

14

Safe biotechnology: 2. The classification of microorganisms..:

K�enzi, M. ; Archer, L. ; Assi, F....
Applied Microbiology and Biotechnology. 27 (1987) 2 - p. , 1987

Link: https://doi.org/10.1007/..

15

Whole-genome sequencing of a sporadic primary immunodeficie..:

Thaventhiran, James E. D ; Allsup, David J ; Lango Allen, Hana...
https://hull-repository.worktribe.com/output/3504021. , 2020

Link: https://hull-repository...