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1

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac,..:

Palma-Milla, Carmen ; Prat-Planas, Aina ; Soengas-Gonda, Emma...
Pediatric Neurology. 155 (2024) - p. 8-17 , 2024

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

2

Expanding the genetic and phenotypic spectrum of congenital..:

Cotrina-Vinagre, Francisco Javier ; Rodríguez-García, María Elena ; del Pozo-Filíu, Lucía...
Journal of Human Genetics. 69 (2024) 5 - p. 187-196 , 2024

Link: https://doi.org/10.1038/..

3

Distal myopathy due to digenic inheritance of TIA1 and SQST..:

Bermejo-Guerrero, Laura ; de Fuenmayor Fernández-de la Hoz, Carlos Pablo ; González-Quereda, Lidia...
Neuromuscular Disorders. 33 (2023) 12 - p. 983-987 , 2023

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

4

Delayed Diagnosis of Congenital Myasthenic Syndromes Errone..:

Muñoz-García, Mariana I. ; Guerrero-Molina, María Paz ; de Fuenmayor-Fernández de la Hoz, Carlos Pablo...
Journal of Clinical Medicine. 12 (2023) 9 - p. 3308 , 2023

Link: https://doi.org/10.3390/..

5

Integration of Phenotype Term Prioritization and Gene Expre..:

González-Quintana, Adrián ; Garrido-Moraga, Rocío ; Palencia-Pérez, Sara I....
Genes. 14 (2023) 7 - p. 1494 , 2023

Link: https://doi.org/10.3390/..

6

Hereditary cerebral small vessel disease: Assessment of a H..:

Hidalgo Mayoral, Irene ; Martínez-Salio, Antonio ; Llamas-Velasco, Sara...
European Journal of Medical Genetics. 65 (2022) 8 - p. 104539 , 2022

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

7

A novel MLIP truncating variant in an 80-year-old patient w..:

Bermejo-Guerrero, Laura ; Arteche-López, Ana ; de Fuenmayor Fernández de la Hoz, Carlos...
Brain. 145 (2022) 10 - p. e99-e102 , 2022

Link: https://doi.org/10.1093/..

8

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of ..:

Gómez-Rodríguez, Maria Jose ; Morales-Conejo, Montserrat ; Arteche-López, Ana...
Genes. 13 (2022) 9 - p. 1609 , 2022

Link: https://doi.org/10.3390/..

9

Towards a Change in the Diagnostic Algorithm of Autism Spec..:

Arteche-López, Ana ; Gómez Rodríguez, Maria José ; Sánchez Calvin, Maria Teresa...
Genes. 12 (2021) 4 - p. 560 , 2021

Link: https://doi.org/10.3390/..

10

First female with Allan-Herndon-Dudley syndrome and partial..:

Quesada-Espinosa, Juan F. ; Garzón-Lorenzo, Lucía ; Lezana-Rosales, José M....
neurogenetics. 22 (2021) 4 - p. 343-346 , 2021

Link: https://doi.org/10.1007/..

11

Heterozygous and Homozygous Variants in SORL1 Gene in Alzhe..:

Alvarez-Mora, Maria Isabel ; Blanco-Palmero, Victor Antonio ; Quesada-Espinosa, Juan Francisco...
International Journal of Molecular Sciences. 23 (2022) 8 - p. 4230 , 2022

Link: https://doi.org/10.3390/..

12

Ataxia episódica tipo 2: estudio clínico, genético y radiol..:

Alcalá-Torres, Juan ; la Fuente, Rubén Pérez-de ; Carre, Agustín Cárdenas-del..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478108/. , 2023

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

13

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of ..:

Gómez-Rodríguez, Maria Jose ; Morales-Conejo, Montserrat ; Arteche-López, Ana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498456/. , 2022

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

14

Towards a Change in the Diagnostic Algorithm of Autism Spec..:

Arteche-López, Ana ; Gómez Rodríguez, Maria José ; Sánchez Calvin, Maria Teresa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068856/. , 2021

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

15

SOD1 mutations in adult‐onset distal spinal muscular atroph:

de Fuenmayor‐Fernández de la Hoz, Carlos Pablo ; Hernández‐Laín, Aurelio ; Olivé, Montse...
European Journal of Neurology. 27 (2020) 11 - p. , 2020

Link: https://doi.org/10.1111/..

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