Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Rovira‐Moreno, Eulàlia
15  Ergebnisse:
Personensuche X
?
1

Distal hereditary motor neuropathy due to a novel YARS1 gen..:

Llauradó, Arnau ; Gratacòs‐Viñola, Margarida ; Rovira‐Moreno, Eulàlia...
Muscle & Nerve.  67 (2023)  6 - p. , 2023
Link: https://doi.org/10.1002/..
 
?
2

Chronic progressive external ophthalmoplegia plus syndrome ..:

Llauradó, Arnau ; Rovira‐Moreno, Eulalia ; Codina‐Solà, Marta...
Clinical Genetics.  103 (2022)  4 - p. 492-494 , 2022
Link: https://doi.org/10.1111/..
 
?
3

Beyond the disease itself: A cross‐cutting educational init..:

Rovira‐Moreno, Eulàlia ; Abuli, Anna ; Codina‐Sola, Marta...
Journal of Genetic Counseling.  30 (2020)  3 - p. 693-700 , 2020
Link: https://doi.org/10.1002/..
 
?
4

Limb-girdle myopathy and mild intellectual disability: The ..:

Restrepo-Vera, Juan Luis ; Muñoz-Cabello, Patricia ; Pérez-Rodon, Jordi...
Neuromuscular Disorders.  33 (2023)  6 - p. 463-467 , 2023
Link: https://doi.org/10.1016/..
 
?
5

The diagnosis communication process in spinal muscular atro..:

Rovira-Moreno, Eulàlia ; Abulí, Anna ; Muñoz-Cabello, Patricia...
Genetics in Medicine Open.  1 (2023)  1 - p. 100825 , 2023
Link: https://doi.org/10.1016/..
 
?
6

Identification of two novel RRM2B variants associated with ..:

Restrepo-Vera, Juan Luis ; Rovira-Moreno, Eulàlia ; Ramón, Javier...
Journal of Human Genetics.  68 (2023)  8 - p. 527-532 , 2023
Link: https://doi.org/10.1038/..
 
?
7

Neurogenic Defects Occur in LRIG2-Associated Urinary Bladde..:

Grenier, Celine ; Lopes, Filipa M. ; Cueto-González, Anna M....
Kidney International Reports.  8 (2023)  7 - p. 1417-1429 , 2023
Link: https://doi.org/10.1016/..
 
?
8

An spanish study of secondary findings in families affected..:

Codina-Solà, Marta ; Trujillano, Laura ; Abulí, Anna...
European Journal of Human Genetics.  31 (2022)  2 - p. 223-230 , 2022
Link: https://doi.org/10.1038/..
 
?
9

An Atypical Presentation of Upper Motor Neuron Predominant ..:

Sánchez-Tejerina, Daniel ; Restrepo-Vera, Juan Luis ; Rovira-Moreno, Eulalia...
Genes.  13 (2022)  8 - p. 1483 , 2022
Link: https://doi.org/10.3390/..
 
?
10

Neurogenic Defects Occur in LRIG2-Associated Urinary Bladde..:

Grenier, Celine ; Lopes, Filipa M ; Cueto-González, Anna M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10334403/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
?
11

The diagnosis communication process in spinal muscular atro..:

Eulàlia Rovira-Moreno ; Anna Abulí ; Patricia Muñoz-Cabello...
http://www.sciencedirect.com/science/article/pii/S2949774423008348.  , 2023
Link: https://doi.org/10.1016/..
 
?
12

An Atypical Presentation of Upper Motor Neuron Predominant ..:

Daniel Sánchez-Tejerina ; Juan Luis Restrepo-Vera ; Eulalia Rovira-Moreno...
https://www.mdpi.com/2073-4425/13/8/1483.  , 2022
Link: https://doi.org/10.3390/..
 
?
13

An Atypical Presentation of Upper Motor Neuron Predominant ..:

Sánchez-Tejerina, Daniel ; Restrepo-Vera, Juan Luis ; Rovira-Moreno, Eulalia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407925/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
?
14

Loss-of-function variants in SRRM2 cause a neurodevelopment..:

Cuinat, Silvestre ; Nizon, Mathilde ; Isidor, Bertrand...
https://research.rug.nl/en/publications/77735448-7d5b-48ef-953d-3b8af8523b5e.  , 2022
Link: https://hdl.handle.net/1..
 
?
15

An Atypical Presentation of Upper Motor Neuron Predominant ..:

Daniel Sánchez-Tejerina ; Juan Luis Restrepo-Vera ; Eulalia Rovira-Moreno...
Molecular Genetics and Genomics.  , 2022
Link: https://doi.org/10.3390/..
 
1-15