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Fernández‐Jaén, Alberto
118
results:
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Format
Online (118)
Mediatypes
Articles (Online) (57)
OpenAccess-fulltext (61)
Languages
english (103)
spanish (5)
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1
Developmental epileptic encephalopathy in DLG4‐related syna..:
Kassabian, Benedetta
;
Levy, Amanda M.
;
Gardella, Elena
...
Epilepsia. 65 (2024) 4 - p. 1029-1045 , 2024
Link:
https://doi.org/10.1111/..
?
2
Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and..:
Jiménez de la Peña, Mar
;
Rincón‐Pérez, Irene
;
López‐Martín, Sara
...
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 211-217 , 2023
Link:
https://doi.org/10.1002/..
?
3
Identification and functional analysis of two new de novo K..:
Liang, Lina
;
Liu, Huihui
;
Bartholdi, Deborah
...
Acta Physiologica. 235 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1111/..
?
4
The development of selective stopping: Qualitative and quan..:
Albert, Jacobo
;
Rincón‐Pérez, Irene
;
Sánchez‐Carmona, Alberto J.
...
Developmental Science. 25 (2021) 5 - p. , 2021
Link:
https://doi.org/10.1111/..
?
5
Tenorio syndrome: Description of 14 novel cases and review ..:
Tenorio‐Castaño, Jair Antonio
;
Arias, Pedro
;
Fernández‐Jaén, Alberto
...
Clinical Genetics. 100 (2021) 4 - p. 405-411 , 2021
Link:
https://doi.org/10.1111/..
?
6
The variability ofSMARCA4‐relatedCoffin–Sirissyndrome: Do n..:
Li, Dong
;
Ahrens‐Nicklas, Rebecca C.
;
Baker, Janice
...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2058-2067 , 2020
Link:
https://doi.org/10.1002/..
?
7
A novel human Cdh1 mutation impairs anaphase promoting comp..:
Rodríguez, Cristina
;
Sánchez‐Morán, Irene
;
Álvarez, Sara
...
Journal of Neurochemistry. 151 (2019) 1 - p. 103-115 , 2019
Link:
https://doi.org/10.1111/..
?
8
Clinical delineation of the PACS1‐related syndrome—Report o..:
Schuurs‐Hoeijmakers, Janneke H. M.
;
Landsverk, Megan L.
;
Foulds, Nicola
...
American Journal of Medical Genetics Part A. 170 (2016) 3 - p. 670-675 , 2016
Link:
https://doi.org/10.1002/..
?
9
Microduplication 10q24.31 in a Spanish girl with scoliosis ..:
Fernández‐Jaén, Alberto
;
Suela, Javier
;
Fernández‐Mayoralas, Daniel Martín
...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 2074-2078 , 2014
Link:
https://doi.org/10.1002/..
?
10
Cerebral palsy, epilepsy, and severe intellectual disabilit..:
Fernández‐Jaén, Alberto
;
Castellanos, María del Carmen
;
Fernández‐Perrone, Ana Laura
...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 2043-2047 , 2014
Link:
https://doi.org/10.1002/..
?
11
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/..
?
12
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/..
?
13
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/..
?
14
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..
?
15
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/..
1-15