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Muñoz-Cabello, Beatriz
340
results:
Search for persons
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Format
Online (340)
Mediatypes
E-Books (1)
Articles (Online) (310)
Bookchapter (Online) (5)
OpenAccess-fulltext (24)
Languages
spanish (14)
english (296)
Sorted by: Relevance
Sorted by: Year
?
1
L-serine treatment in patients with GRIN-related encephalop..:
Juliá-Palacios, Natalia
;
Olivella, Mireia
;
Sigatullina Bondarenko, Mariya
...
Brain. 147 (2024) 5 - p. 1653-1666 , 2024
Link:
https://doi.org/10.1093/..
?
2
Functional effects of disease-associated variants reveal th..:
Xie, Lingling
;
McDaniel, Miranda J.
;
Perszyk, Riley E.
...
Cellular and Molecular Life Sciences. 80 (2023) 4 - p. , 2023
Link:
https://doi.org/10.1007/..
?
3
A novel dominant mutation in CRYAB gene leading to a severe..:
Marcos, Ana T.
;
Amorós, Diego
;
Muñoz-Cabello, Beatriz
...
Molecular Genetics & Genomic Medicine. 8 (2020) 8 - p. , 2020
Link:
https://doi.org/10.1002/..
?
4
Co-segregation of a homozygousSMN1deletion and a heterozygo..:
Fernández, Raquel M.
;
Peciña, Ana
;
Muñoz-Cabello, Beatriz
..
Clinical Case Reports. 4 (2016) 9 - p. 879-884 , 2016
Link:
https://doi.org/10.1002/..
?
5
Autoimmune post–herpes simplex encephalitis of adults and t..:
Armangue, Thaís
;
Moris, Germán
;
Cantarín-Extremera, Verónica
...
Neurology. 85 (2015) 20 - p. 1736-1743 , 2015
Link:
https://doi.org/10.1212/..
?
6
Somatic mosaicism for Y120X mutation in the MECP2 gene caus..:
Pieras, Juan I
;
Muñoz-cabello, Beatriz
;
Borrego, Salud
...
Brain and Development. 33 (2011) 7 - p. 608-611 , 2011
Link:
https://doi.org/10.1016/..
?
7
Functional effects of disease-associated variants reveal th..:
Xie, Lingling
;
McDaniel, Miranda J
;
Perszyk, Riley E
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641759/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
8
Intrahepatic Cholestasis Is a Clinically Significant Featur..:
Molera, Cristina
;
Sarishvili, Tinatin
;
Nascimento, Andrés
...
Journal of Neuromuscular Diseases. 9 (2022) 1 - p. 73-82 , 2022
Link:
https://doi.org/10.3233/..
?
9
Co-segregation of a homozygous SMN1 deletion and a heterozy..:
Fernández, Raquel María
;
Peciña, Ana
;
Muñoz-Cabello, Beatriz
..
Clinical Case Reports, 4 (9), 879-884.. , 2021
Link:
https://idus.us.es/handl..
?
10
A novel dominant mutation in CRYAB gene leading to a severe..:
Marcos, Ana T
;
Amorós, Diego
;
Muñoz-Cabello, Beatriz
...
http://hdl.handle.net/10668/15582. , 2020
Link:
http://hdl.handle.net/10..
?
11
A novel dominant mutation in CRYAB gene leading to a severe..:
Marcos, Ana T
;
Amorós, Diego
;
Muñoz-Cabello, Beatriz
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434720/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
12
Síndrome de West criptogénico: perfil clínico, respuesta al..:
Calderón Romero, María
;
Arce Portillo, Elena
;
López Lobato, Mercedes
...
Anales de Pediatría. 89 (2018) 3 - p. 176-182 , 2018
Link:
https://doi.org/10.1016/..
?
13
Cryptogenic West syndrome: Clinical profile, response to tr..:
Calderón Romero, María
;
Arce Portillo, Elena
;
López Lobato, Mercedes
...
Anales de Pediatría (English Edition). 89 (2018) 3 - p. 176-182 , 2018
Link:
https://doi.org/10.1016/..
?
14
Autoimmune post–herpes simplex encephalitis of adults and t..:
Armangue, Thaís
;
Moris, Germán
;
Cantarín-Extremera, Verónica
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653102/. , 2015
Link:
http://www.ncbi.nlm.nih...
?
15
A novel dominant mutation in CRYAB gene leading to a severe..:
Ana T. Marcos
;
Diego Amorós
;
Beatriz Muñoz-Cabello
...
https://doi.org/10.1002/mgg3.1290. , 2020
Link:
https://doi.org/10.1002/..
1-15