E-LIB Suche - Ergebnisse für: Natera-de Benito, D.

1

Pathological features in paediatric patients with TK2 defic..:

Jou, C ; Nascimento, A ; Codina, A...
info:eu-repo/grantAgreement/ES/DGA/B33-20R. , 2022

Link: http://zaguan.unizar.es/..

2

Solving patients with rare diseases through programmatic re..:

Matalonga L ; Hernandez-Ferrer C ; Piscia D...
info:eu-repo/semantics/altIdentifier/pmid/34075210. , 2021

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

3

Exome reanalysis and proteomic profiling identified TRIP4 a..:

Töpf, A ; Pyle, A ; Griffin, H...
https://discovery.ucl.ac.uk/id/eprint/10171386/1/Houlden_Exome%20reanalysis%20and%20proteomic%20profiling%20identified%20TRIP4%20as%20a%20novel%20cause%20of%20cerebellar%20hypoplasia%20and%20spinal%20muscular%20atrophy_VoR.pdf. , 2021

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

4

Targeted next-generation sequencing in a large cohort of ge..:

Gonzalez-Quereda, L ; Rodriguez, Maria José ; Diaz-Manera, Jordi...
Ministerio de Economía y Competitividad PI15/01898. , 2020

Link: https://ddd.uab.cat/reco..

5

Chronic inflammatory demyelinating polyneuropathy associate..:

Carrera-García, Laura ; Natera-De Benito, D ; LleixÃ, C...
Instituto de Salud Carlos III FIS17-00234. , 2019

Link: https://ddd.uab.cat/reco..

6

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: ..:

Martínez Olorón, Patricia ; Alegría, Iosune ; Cesar, Sergi...
info:eu-repo/semantics/altIdentifier/doi/10.3390/ijms25115836. , 2024

Link: http://hdl.handle.net/10..

7

The emerging spectrum of fetal acetylcholine receptor antib..:

Allen, Nicholas M ; O'Rahelly, Mark ; Eymard, Bruno...
Brain. , 2024

Link: http://hdl.handle.net/10..

8

Expanding the phenotypic spectrum ofTRAPPC11-related muscul..:

Justel, Maria ; Jou, Cristina ; Sariego-Jamardo, Andrea...
https://doi.org/10.1136/jmg-2022-109132. , 2023

Link: https://uvadoc.uva.es/ha..

9

Genetic diagnosis of Duchenne and Becker muscular dystrophy..:

Segarra-Casas, Alba ; Domínguez-Gonzalez, Cristina ; Hernández-Laín, Aurelio...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2023

Link: http://hdl.handle.net/10..

10

The emerging spectrum of fetal acetylcholine receptor antib..:

Allen, Nicholas M ; O'Rahelly, Mark ; Eymard, Bruno...
boreal:288924. , 2023

Link: http://hdl.handle.net/20..

11

Innovative Computerized Dystrophin Quantification Method Ba..:

Codina, Anna ; Roldán, Mònica ; Natera-de Benito, Daniel...
Publisher's version. , 2023

Link: http://hdl.handle.net/10..

12

The emerging spectrum of fetal acetylcholine receptor antib..:

Allen, Nicholas M ; O'Rahelly, Mark ; Eymard, Bruno...
boreal:288924. , 2023

Link: http://hdl.handle.net/20..

13

Characterization of cardiac involvement in children with LM..:

Cesar, Sergi ; Campuzano Larrea, Oscar ; Cruzalegui, José...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fcell.2023.1142937. , 2023

Link: http://hdl.handle.net/10..

14

LMNA-related muscular dystrophy: Identification of variants..:

Cesar, Sergi ; Coll Vidal, Mònica ; Fiol, Victoria...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fgene.2023.1135438. , 2023

Link: http://hdl.handle.net/10..

15

CRISPR/Cas9-mediated allele-specific disruption of a domina..:

López-Márquez, Arístides ; Morín, Matías ; Fernández-Peñalver, Sergio...
Reproducció del document publicat a: https://doi.org/10.3390/ijms23084410. , 2022

Link: http://hdl.handle.net/24..