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Fernández-Jaén, Alberto
403  Ergebnisse:
Personensuche X
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1

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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2

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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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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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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8

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/..
 
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9

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/..
 
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10

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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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

Clinical and Genetic Features in Patients With Reflex Bathi..:

Accogli, Andrea ; Wiegand, Gert ; Scala, Marcello...
Neurology.  97 (2021)  6 - p. , 2021
Link: https://doi.org/10.1212/..
 
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15

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/..
 
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