E-LIB Suche - Ergebnisse für: Calpena, E

1

The EGR2 gene is involved in axonal Charcot−Marie−Tooth dis..:

Sevilla, T. ; Sivera, R. ; Martínez‐Rubio, D....
European Journal of Neurology. 22 (2015) 12 - p. 1548-1555 , 2015

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

2

A novel locus for a hereditary recurrent neuropathy on chro..:

Calpena, E. ; Martínez-Rubio, D. ; Arpa, J....
Neuromuscular Disorders. 24 (2014) 8 - p. 660-665 , 2014

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

3

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, AT ; Camps, C ; Giacopuzzi, E...
doi:10.1186/s13073-023-01240-0. , 2023

Link: https://doi.org/10.1186/..

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

Case report: A third variant in the 5′ UTR of TWIST1 create..:

Diaz-Gonzalez, F ; Sacedo-Gutiérrez, JM ; Twigg, SRF...
doi:10.3389/fgene.2022.1089417. , 2023

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

6

Dissection of contiguous gene effects for deletions around ..:

Calpena, E ; Mcgowan, S. J ; Kelly, F. B...
10.1002/humu.24213. , 2023

Link: https://hdl.handle.net/2..

7

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/..

8

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, AT ; Camps, C ; Giacopuzzi, E...
https://discovery.ucl.ac.uk/id/eprint/10181812/1/s13073-023-01240-0.pdf. , 2023

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

9

Craniosynostosis, inner ear, and renal anomalies in a child..:

Tooze, RS ; Calpena, E ; Twigg, SRF...
doi:10.1136/jmg-2022-108946. , 2022

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

10

Recurrent de novo missense variants across multiple histone..:

Tessadori, F ; Duran, K ; Knapp, K...
doi:10.1016/j.ajhg.2022.02.003. , 2022

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

11

Dissection of contiguous gene effects for deletions around ..:

Calpena, E ; Mcgowan, S. J ; Kelly, F. B...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24213. , 2021

Link: https://hal.univ-lille.f..

12

Dissection of contiguous gene effects for deletions around ..:

Calpena, E ; Mcgowan, S. J ; Kelly, F. B...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24213. , 2021

Link: https://hal.univ-lille.f..

13

Evaluating the performance of a clinical genome sequencing ..:

Hyder, Z ; Calpena, E ; Pei, Y...
doi:10.1038/s41436-021-01297-5. , 2021

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

14

Dissection of contiguous gene effects for deletions around ..:

Calpena, E ; McGowan, SJ ; Kelly, FB...
doi:10.1002/humu.24213. , 2021

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

15

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

Calpena, E ; Wurmser, M ; McGowan, S...
doi:10.1136/jmedgenet-2020-107459. , 2020

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