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1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

Falls in less than one year-old infants: Management in the ..:

Rubio García, Elena ; Jiménez de Domingo, Ana ; Marañon Pardillo, Rafael...
Anales de Pediatría (English Edition). 87 (2017) 5 - p. 269-275 , 2017

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

7

Epidemiology and risk factors in injuries due to fall in in..:

Jiménez de Domingo, Ana ; Rubio García, Elena ; Marañon Pardillo, Rafael...
Anales de Pediatría (English Edition). 86 (2017) 6 - p. 337-343 , 2017

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

8

Caídas en menores de un año: ¿qué hacemos en urgencias?:

Rubio García, Elena ; Jiménez de Domingo, Ana ; Marañon Pardillo, Rafael...
Anales de Pediatría. 87 (2017) 5 - p. 269-275 , 2017

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

9

Epidemiología y factores de riesgo de las lesiones por caíd..:

Jiménez de Domingo, Ana ; Rubio García, Elena ; Marañon Pardillo, Rafael...
Anales de Pediatría. 86 (2017) 6 - p. 337-343 , 2017

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

10

Neurological complications after gamma-knife radiosurgery f..:

Butragueño Laiseca, Laura ; Oikonomopoulou, Niki ; Miranda Herrero, María Concepción...
European Journal of Paediatric Neurology. 20 (2016) 5 - p. 745-749 , 2016

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

11

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

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

12

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

Martín Fernández-Mayoralas, Daniel ; Albert, Jacobo ; López-Martín, Sara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928183/. , 2022

Link: http://www.ncbi.nlm.nih...

13

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..

14

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

Tran, Viviane ; Goyette, Marie-Anne ; Martínez-García, Mónica...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9707537/. , 2021

Link: http://www.ncbi.nlm.nih...

15

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..

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