E-LIB Suche - Ergebnisse für: Lango Allen, H

1

A CACNA1D mutation in a patient with persistent hyperinsuli..:

Flanagan, SE ; Vairo, F ; Johnson, MB...
Pediatric Diabetes. 18 (2017) 4 - p. 320-323 , 2017

Link: https://doi.org/10.1111/..

2

Improved genetic testing for monogenic diabetes using targe..:

Ellard, S. ; Lango Allen, H. ; De Franco, E....
Diabetologia. 56 (2013) 9 - p. 1958-1963 , 2013

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

3

Publisher Correction: Whole-genome sequencing of a sporadic..:

Thaventhiran, J.E.D ; Burren, O.S ; Rae, W...
Diğer. , 2020

Link: https://hdl.handle.net/1..

4

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

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

Link: https://doi.org/10.1038/..

5

Publisher Correction: Whole-genome sequencing of a sporadic..:

Thaventhiran, J.E.D ; Lango Allen, H ; Burren, O.S...
10.1038/s41586-020-2556-6. , 2020

Link: https://hdl.handle.net/1..

6

Differential IRF8 Transcription Factor Requirement Defines ..:

Cytlak, U ; Resteu, A ; Pagan, S...
https://eprints.whiterose.ac.uk/164073/7/1-s2.0-S1074761320302831-main.pdf. , 2020

Link: https://eprints.whiteros..

7

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..

8

Predicting the Occurrence of Variants in RAG1 and RAG2:

Lawless, D ; Lango Allen, H ; Thaventhiran, J...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10875-019-00670-z. , 2019

Link: https://serval.unil.ch/n..

9

Predicting the Occurrence of Variants in RAG1 and RAG2:

Lawless, D ; Lango Allen, H ; Thaventhiran, J...
https://eprints.whiterose.ac.uk/149660/13/Lawless2019_Article_PredictingTheOccurrenceOfVaria.pdf. , 2019

Link: https://eprints.whiteros..

10

Copy number variation of LINGO1 in familial dystonic tremor:

Warner, TT ; Alakbarzade, V ; Iype, T...
https://discovery.ucl.ac.uk/id/eprint/10062821/8/Copy%20number%20variation%20of%20LINGO1%20in%20familial%20dystonic%20tremor.pdf. , 2019

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

11

Diagnosis of lethal or prenatal-onset autosomal recessive d..:

Stals, KL ; Wakeling, M ; Baptista, J...
https://openaccess.sgul.ac.uk/id/eprint/110101/1/Stals_et_al-2018-Prenatal_Diagnosis.pdf. , 2018

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

12

Diagnosis of lethal or prenatal-onset autosomal recessive d..:

Stals, KL ; Wakeling, M ; Baptista, J...
issn:0197-3851. , 2018

Link: http://hdl.handle.net/11..

13

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..

14

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..

15

Prevalence and clinical challenges among adults with primar..:

Lawless, D ; Geier, CB ; Farmer, JR...
https://eprints.whiterose.ac.uk/128041/15/Prevalence%20and%20clinical%20challenges%20among%20adult%20primary%20immunodeficiency%20patients%20with%20RAG%20deficiency.pdf. , 2018

Link: https://eprints.whiteros..