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Fernández‐Jaén, Alberto
118  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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/..
 
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