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Fernández-Jaén, Alberto
288
results:
Articles (Online) X
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english (243)
spanish (29)
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1
Etiological involvement of KCND1 variants in an X-linked ne..:
Kalm, Tassja
;
Schob, Claudia
;
Völler, Hanna
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1206-1221 , 2024
Link:
https://doi.org/10.1016/..
?
2
Developmental outcome of electroencephalographic findings i..:
Ribeiro-Constante, Juliana
;
Tristán-Noguero, Alba
;
Martínez Calvo, Fernando Francisco
...
Frontiers in Cell and Developmental Biology. 12 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
3
Broadening the clinical spectrum: molecular mechanisms and ..:
Ousingsawat, Jiraporn
;
Talbi, Khaoula
;
Gómez-Martín, Hilario
...
Brain. 147 (2023) 6 - p. 1982-1995 , 2023
Link:
https://doi.org/10.1093/..
?
4
HDAC9structural variants disruptingTWIST1transcriptional re..:
Hirsch, Naama
;
Dahan, Idit
;
D'haene, Eva
...
Genome Research. 32 (2022) 7 - p. 1242-1253 , 2022
Link:
https://doi.org/10.1101/..
?
5
GIGYF1 disruption associates with autism and impaired IGF-1..:
Chen, Guodong
;
Yu, Bin
;
Tan, Senwei
...
Journal of Clinical Investigation. 132 (2022) 19 - p. , 2022
Link:
https://doi.org/10.1172/..
?
6
Mutations in the COL18A1 gen associated with knobloch syndr..:
Irene Díez García-Prieto, I
;
Lopez-Martín, Sara
;
Albert, Jacobo
...
Neurocase. 28 (2022) 1 - p. 11-18 , 2022
Link:
https://doi.org/10.1080/..
?
7
An HNRNPK-specific DNA methylation signature makes sense of..:
Choufani, Sanaa
;
McNiven, Vanda
;
Cytrynbaum, Cheryl
...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1867-1884 , 2022
Link:
https://doi.org/10.1016/..
?
8
A Novel Loss-of-Function SEMA3E Mutation in a Patient with ..:
Paganoni, Alyssa J. J.
;
Amoruso, Federica
;
Porta Pelayo, Javier
...
International Journal of Molecular Sciences. 23 (2022) 10 - p. 5632 , 2022
Link:
https://doi.org/10.3390/..
?
9
Functional and structural deficiencies of Gemin5 variants a..:
Francisco-Velilla, Rosario
;
Embarc-Buh, Azman
;
del Caño-Ochoa, Francisco
...
Life Science Alliance. 5 (2022) 7 - p. e202201403 , 2022
Link:
https://doi.org/10.26508..
?
10
Effect of an autism-associated KCNMB2 variant, G124R, on BK..:
Moldenhauer, Hans J.
;
Dinsdale, Ria L.
;
Alvarez, Sara
..
Current Research in Physiology. 5 (2022) - p. 404-413 , 2022
Link:
https://doi.org/10.1016/..
?
11
Mutations in phospholipase C eta-1 (PLCH1) are associated w..:
Drissi, Ichrak
;
Fletcher, Emily
;
Shaheen, Ranad
...
Journal of Medical Genetics. 59 (2021) 4 - p. 358-365 , 2021
Link:
https://doi.org/10.1136/..
?
12
Selective Inhibitory Control in Middle Childhood:
Rincón-Pérez, Irene
;
Sánchez-Carmona, Alberto J.
;
Arroyo-Lozano, Susana
...
International Journal of Environmental Research and Public Health. 18 (2021) 12 - p. 6300 , 2021
Link:
https://doi.org/10.3390/..
?
13
A mild clinical and neuropsychological phenotype of Renpenn..:
Lopez-Martín, Sara
;
Albert, Jacobo
;
Peña Vila-Belda, Mᵃ del Mar
...
Applied Neuropsychology: Child. 11 (2021) 4 - p. 921-927 , 2021
Link:
https://doi.org/10.1080/..
?
14
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Gia..:
Young, Natalie
;
Asif, Maria
;
Jackson, Matthew
...
Genes. 12 (2021) 9 - p. 1294 , 2021
Link:
https://doi.org/10.3390/..
?
15
BiallelicELMO3mutations and loss of function for DOCK-media..:
Tran, Viviane
;
Goyette, Marie-Anne
;
Martínez-García, Mónica
...
Small GTPases. 13 (2021) 1 - p. 48-55 , 2021
Link:
https://doi.org/10.1080/..
1-15