E-LIB Suche - Ergebnisse für: Rovira-Moreno, Eulalia

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

Psychiatric genetic counseling: A mapping exercise:

Moldovan, Ramona ; McGhee, Kevin A. ; Coviello, Domenico...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 180 (2019) 8 - p. 523-532 , 2019

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

8

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...

9

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...

10

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..

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 San José, Daniel ; Restrepo Vera, Juan Luis ; Rovira Moreno, Eulàlia...
Genes;13(8). , 2022

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

14

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/..

15

A crowdsourcing database for the copy-number variation of t..:

López-López, Daniel ; Roldán, Gema ; Fernández-Rueda, Jose L...
info:eu-repo/grantAgreement/ES/ISCIII/IMP-00009. , 2023

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