E-LIB Suche - Ergebnisse für: Fernández Perrone, Ana Laura

1

Biallelic ELMO3 mutations and loss of function for DOCK-med..:

Tran, Viviane ; Goyette, Marie-Anne ; Martínez García, Mónica...
https://doi.org/10.1080/21541248.2021.1888557. , 2022

2

Mutación de novo en DYNC1H1, atrofia muscular espinal y pro..:

Fernández Perrone, Ana Laura ; Moreno Fernández, P ; Álvarez de Andrés, Sara.
https://doi.org/10.1016/j.nrl.2021.08.001. , 2022

Link: http://hdl.handle.net/11..

3

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/..

4

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/..

5

Abnormal frontal gyrification pattern and uncinate developm..:

Jiménez de la Peña, Mar ; Fernández-Mayoralas, Daniel Martín ; López-Martín, Sara...
European Journal of Paediatric Neurology. 35 (2021) - p. 8-15 , 2021

Link: https://doi.org/10.1016/..

6

Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Bo..:

Fernández Mayoralas, Daniel Martín ; Albert, Jacobo ; López Martín, Sara...
https://doi.org/10.1159/000519365. , 2021

Link: http://hdl.handle.net/11..

7

Síndrome de Jansen-de Vries. Primer caso diagnosticado en E..:

Fernández Mayoralas, Daniel Martín ; Fernández Perrone, Ana Laura ; Jiménez de Domingo, Ana..
https://doi.org/10.1016/j.nrl.2020.06.006. , 2021

Link: http://hdl.handle.net/11..

8

ANO3 and early-onset dyskinetic encephalopathy:

Jiménez de Domingo, Ana ; Lopez-Martín, Sara ; Albert, Jacobo...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104085 , 2020

Link: https://doi.org/10.1016/..

9

Estudios genéticos y neurodesarrollo. De la utilidad al mod..:

Calleja Pérez, Beatriz ; Fernández Perrone, Ana Laura ; Fernández Mayoralas, Daniel Martín...
Calleja Pérez, B., Fernández Perrone, A. L., Fernández Mayoralas, D. M., Jiménez de Domingo, A., Tirado, P., López Arribas, S., Suárez Guinea, R., y Fernández Jaén, A. (2020). Estudios genéticos y neurodesarrollo. De la utilidad al modelo genético. Medicina, 80(S2), 26-30.. , 2020

Link: http://hdl.handle.net/11..

10

Trastorno por déficit de atención/hiperactividad. Hábitos d..:

Calleja Pérez, Beatriz ; Párraga, Juan Luis ; Albert, Jacobo...
https://www.medicinabuenosaires.com/indices-de-2010-a-2019/volumen-79-ano-2019-suplemento-1/trastorno-por-deficit-de-atencion-hiperactividad-habitos-de-estudio/. , 2019

Link: http://hdl.handle.net/11..

11

Mutations in BRAT1 cause autosomal recessive progressive en..:

Fernández-Jaén, Alberto ; Álvarez, Sara ; Young So, Eui...
European Journal of Paediatric Neurology. 20 (2016) 3 - p. 421-425 , 2016

Link: https://doi.org/10.1016/..

12

Cingulate Cortical Thickness and Dopamine Transporter (DAT1..:

Fernández-Jaén, Alberto ; Albert, Jacobo ; Fernández-Mayoralas, Daniel Martín...
Journal of Attention Disorders. 22 (2016) 7 - p. 651-660 , 2016

Link: https://doi.org/10.1177/..

13

Cortical thickness differences in the prefrontal cortex in ..:

Fernández-Jaén, Alberto ; López-Martín, Sara ; Albert, Jacobo...
Psychiatry Research: Neuroimaging. 233 (2015) 3 - p. 409-417 , 2015

Link: https://doi.org/10.1016/..

14

Cortical thinning of temporal pole and orbitofrontal cortex..:

Fernández-Jaén, Alberto ; López-Martín, Sara ; Albert, Jacobo...
Psychiatry Research: Neuroimaging. 224 (2014) 1 - p. 8-13 , 2014

Link: https://doi.org/10.1016/..

15

Cortical thickness at the time of the initial attack in two..:

Fernández-Jaén, Alberto ; Fernández-Mayoralas, Daniel Martín ; Fernández-Perrone, Ana Laura...
European Journal of Paediatric Neurology. 18 (2014) 3 - p. 295-300 , 2014

Link: https://doi.org/10.1016/..