E-LIB Suche - Ergebnisse für: McGowan, Simon

1

BTB domain mutations perturbing KCTD15 oligomerisation caus..:

Miller, Kerry A ; Cruz Walma, David A ; Pinkas, Daniel M...
Journal of Medical Genetics. , 2024

Link: https://doi.org/10.1136/..

2

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

Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A....
Genetics in Medicine. 25 (2023) 9 - p. 100883 , 2023

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

3

Germinal centers output clonally diverse plasma cell popula..:

Sprumont, Adrien ; Rodrigues, Ana ; McGowan, Simon J...
Cell. 186 (2023) 25 - p. 5486-5499.e13 , 2023

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

4

Single cell spatial analysis reveals inflammatory foci of i..:

Weeratunga, Praveen ; Denney, Laura ; Bull, Joshua A....
Nature Communications. 14 (2023) 1 - p. , 2023

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

5

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Movement Disorders. 39 (2023) 1 - p. 141-151 , 2023

Link: https://doi.org/10.1002/..

6

Unexpected role of SIX1 variants in craniosynostosis: expan..:

Calpena, Eduardo ; Wurmser, Maud ; McGowan, Simon J...
Journal of Medical Genetics. 59 (2021) 2 - p. 165-169 , 2021

Link: https://doi.org/10.1136/..

7

Dissection of contiguous gene effects for deletions aroundE..:

Calpena, Eduardo ; McGowan, Simon J. ; Blanco Kelly, Fiona...
Human Mutation. 42 (2021) 7 - p. 811-817 , 2021

Link: https://doi.org/10.1002/..

8

Correction: SMAD6 variants in craniosynostosis: genotype an..:

Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi...
Genetics in Medicine. 22 (2020) 9 - p. 1567 , 2020

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

9

CSynth: an interactive modelling and visualization tool for..:

Todd, Stephen ; Todd, Peter ; McGowan, Simon J...
Bioinformatics. 37 (2020) 7 - p. 951-955 , 2020

Link: https://doi.org/10.1093/..

10

SMAD6 variants in craniosynostosis: genotype and phenotype ..:

Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi...
Genetics in Medicine. 22 (2020) 9 - p. 1498-1506 , 2020

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

11

Patient-derived malignant pleural mesothelioma cell culture..:

Kanellakis, Nikolaos I ; Asciak, Rachelle ; Hamid, Megat Abd...
Thorax. 75 (2020) 11 - p. 1004-1008 , 2020

Link: https://doi.org/10.1136/..

12

A Comprehensive Analysis of Key Immune Checkpoint Receptors..:

Li, Xi ; Wang, Rouzheng ; Fan, Peiwen...
Frontiers in Oncology. 9 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

13

Majeed syndrome: description of a novel mutation and therap..:

Roy, Noémi B A ; Zaal, Ahmad I ; Hall, Georgina...
Rheumatology. 59 (2019) 2 - p. 448-451 , 2019

Link: https://doi.org/10.1093/..

14

Unravelling Intratumoral Heterogeneity through High-Sensiti..:

Rodriguez-Meira, Alba ; Buck, Gemma ; Clark, Sally-Ann...
Molecular Cell. 73 (2019) 6 - p. 1292-1305.e8 , 2019

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

15

Single Cell Analysis Resolves Genetic and Transcriptional H..:

Rodriguez-Meira, Alba ; Buck, Gemma ; Clark, Sally...
Experimental Hematology. 64 (2018) - p. S97 , 2018

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