E-LIB Suche - Ergebnisse für: Wilson, LC

1

Autosomal dominant B‐cell immunodeficiency, distal limb ano..:

Tischkowitz, M ; Goodman, F ; Koliou, M...
Clinical Genetics. 66 (2004) 6 - p. 550-555 , 2004

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

2

A Criterion for Finite Topological Determinacy of Map-Germs:

Brodersen, H ; Ishikawa, G ; Wilson, LC
Proceedings of the London Mathematical Society. 74 (1997) 3 - p. 662-700 , 1997

Link: https://doi.org/10.1112/..

3

Opioid Use among Same-Day Surgery Patients: Prevalence, Man..:

Wilson, Jennifer LC ; Poulin, Patricia A ; Sikorski, Robert...
Pain Research and Management. 20 (2015) 6 - p. 300-304 , 2015

Link: https://doi.org/10.1155/..

4

Pathogenic variants in the paired-related homeobox 1 gene (..:

Tooze, RS ; Miller, KA ; Swagemakers, SMA...
doi:10.1016/j.gim.2023.100883. , 2023

Link: https://doi.org/10.1016/..

5

Review of recurrently mutated genes in craniosynostosis sup..:

Tooze, RS ; Calpena, E ; Weber, A...
doi:10.3390/genes14030615. , 2023

Link: https://doi.org/10.3390/..

6

Biallelic P4HTM variants associated with HIDEA syndrome and..:

Hay, E ; Wilson, LC ; Hoskins, B...
https://discovery.ucl.ac.uk/id/eprint/10131864/1/s41431-021-00932-8.pdf. , 2021

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

7

A genome-wide association study implicates the BMP7 locus a..:

Justice, CM ; Cuellar, A ; Bala, K...
doi:10.1007/s00439-020-02157-z. , 2020

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

8

SMAD6 variants in craniosynostosis: genotype and phenotype ..:

Calpena, E ; Cuellar, A ; Bala, K...
Calpena , E , Cuellar , A , Bala , K , Swagemakers , S , Koelling , N , McGowan , SJ , Phipps , JM , Balasubramanian , M , Cunningham , ML , Douzgou , S , Lattanzi , W , Morton , JEV , Shears , D , Weber , A , Wilson , LC , Lord , H , Lester , T , Johnson , D , Wall , SA , Twigg , SRF , Mathijssen , I , Boardman-Pretty , F , Boyadjiev , SA & Wilkie , AOM 2020 , ' SMAD6 variants in craniosynostosis: genotype and phenotype evaluation ' , Genetics in Medicine , vol. 22 , no. 9 , pp. 1498-1506 . https://doi.org/10.1038/s41436-020-0817-2. , 2020

Link: https://pure.eur.nl/en/p..

9

A new multi-system disorder caused by the Gαs mutation p.F3..:

Biebermann, H ; Kleinau, G ; Schnabel, D...
https://discovery.ucl.ac.uk/id/eprint/10058334/42/Biebermann_jc.2018-01250.pdf. , 2019

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

10

Diagnostic value of exome and whole genome sequencing in cr..:

Miller, KA ; Twigg, SRF ; McGowan, SJ...
issn:0022-2593. , 2017

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

11

Diagnostic value of exome and whole genome sequencing in cr..:

Miller, KA ; Twigg, SRF ; McGowan, SJ...
Miller , KA , Twigg , SRF , McGowan , SJ , Phipps , JM , Fenwick , AL , Johnson , D , Wall , SA , Noons , P , Rees , KEM , Tidey , EA , Craft , J , Taylor , J , Taylor , JC , Goos , J , Swagemakers , S , Mathijssen , I , van der Spek , P , Lord , H , Lester , T , Abid , N , Cilliers , D , Hurst , JA , Morton , JEV , Sweeney , E , Weber , A , Wilson , LC & Wilkie , AOM 2017 , ' Diagnostic value of exome and whole genome sequencing in craniosynostosis ' , Journal of Medical Genetics , vol. 54 , no. 4 , pp. 260-268 . https://doi.org/10.1136/jmedgenet-2016-104215. , 2017

Link: https://pure.eur.nl/en/p..

12

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Hom..:

Mills, PB ; Darin, N ; Reid, E...
https://discovery.ucl.ac.uk/id/eprint/1522570/1/Mills_Final%20version%20Main%20Text_Mills%20and%20Clayton_AJHG-D-16-00593.pdf. , 2016

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

13

Mutations in the Gene Encoding IFT Dynein Complex Component..:

Schmidts, M ; Vodopiutz, J ; Christou-Savina, S...
https://discovery.ucl.ac.uk/id/eprint/1414853/1/1-s2.0-S0002929713004606-main.pdf. , 2013

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

14

GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL ..:

de Pontual, Loic ; Kettaneh, Dania ; Gordon, Chris...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21442. , 2011

Link: https://hal.science/hal-..

15

GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL ..:

De Pontual, Loic ; Kettaneh, Dania ; Gordon, Chris...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21442. , 2011

Link: https://hal.archives-ouv..