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

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

Tooze, R. S ; Miller, K. A ; Swagemakers, S. M. A...
10.1016/j.gim.2023.100883. , 2024

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

4

Recurrent de novo missense variants across multiple histone..:

Tessadori, F ; Duran, K ; Knapp, K...
10.1016/j.ajhg.2022.02.003. , 2024

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

5

The impact of inversions across 33,924 families with rare d..:

Pagnamenta, A.T ; Yu, J ; Walker, S...
https://eprints.whiterose.ac.uk/214063/1/The%20impact%20of%20inversions%20across%2033,924%20families%20with%20rare%20disease%20from%20a%20national%20genome%20sequencing%20project.pdf. , 2024

Link: https://eprints.whiteros..

6

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/..

7

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..

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

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/..

10

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

Pagnamenta, AT ; Camps, C ; Giacopuzzi, E...
https://openaccess.sgul.ac.uk/id/eprint/116180/1/s13073-023-01240-0.pdf. , 2023

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

11

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/..

12

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/..

13

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

Tooze, R. S ; Miller, K. A ; Swagemakers, S. M. A...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2023.100883. , 2023

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

14

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/..

15

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/..