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Armengol, Lluís
217  results:
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1

Unexpected complexity in the molecular diagnosis of spastic..:

Mademont‐Soler, Irene ; Esteba‐Castillo, Susanna ; Jiménez‐Xifra, Aida...
Molecular Genetics & Genomic Medicine.  12 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Reverse Phenotyping after Whole-Exome Sequencing in Childre..:

Ilic, Nikola ; Maric, Nina ; Maver, Ales...
Genes.  15 (2024)  6 - p. 789 , 2024
Link: https://doi.org/10.3390/..
 
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3

Functional effects of disease-associated variants reveal th..:

Xie, Lingling ; McDaniel, Miranda J. ; Perszyk, Riley E....
Cellular and Molecular Life Sciences.  80 (2023)  4 - p. , 2023
Link: https://doi.org/10.1007/..
 
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4

Advanced Optical Microscopy: Unveiling Functional Insights ..:

Roldán, Mònica ; Nolasco, Gregorio Alexander ; Armengol, Lluís...
International Journal of Molecular Sciences.  24 (2023)  18 - p. 13699 , 2023
Link: https://doi.org/10.3390/..
 
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5

Severe congenital X-linked myopathy with excessive autophag..:

Blanco-Arias, Patricia ; Medina Martínez, Inmaculada ; Arrabal Fernández, Luisa...
Neuromuscular Disorders.  33 (2023)  7 - p. 557-561 , 2023
Link: https://doi.org/10.1016/..
 
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6

GCAT|Panel, a comprehensive structural variant haplotype ma..:

Valls-Margarit, Jordi ; Galván-Femenía, Iván ; Matías-Sánchez, Daniel...
Nucleic Acids Research.  50 (2022)  5 - p. 2464-2479 , 2022
Link: https://doi.org/10.1093/..
 
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7

Publisher Correction: MLIP genotype as a predictor of pharm..:

Canut, María I. ; Villa, Olaya ; Kudsieh, Bachar...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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8

MLIP genotype as a predictor of pharmacological response in..:

Canut, María I. ; Villa, Olaya ; Kudsieh, Bachar...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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9

Further delineation of the phenotype of PAK3-associated x-l..:

Nagy, Dóra ; Farkas, Katalin ; Armengol, Lluís...
European Journal of Medical Genetics.  63 (2020)  4 - p. 103800 , 2020
Link: https://doi.org/10.1016/..
 
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10

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a he..:

Marcos, Ana T. ; Martín‐Doncel, Elena ; Morejón‐García, Patricia...
Annals of Clinical and Translational Neurology.  7 (2020)  5 - p. 808-818 , 2020
Link: https://doi.org/10.1002/..
 
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11

Screening of dementia genes by whole-exome sequencing in Sp..:

Ramos-Campoy, Oscar ; Antonell, Anna ; Falgàs, Neus...
Neurobiology of Aging.  93 (2020)  - p. e1-e9 , 2020
Link: https://doi.org/10.1016/..
 
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12

Hepatic accumulation of S-adenosylmethionine in hamsters wi..:

Maria del Bas, Josep ; Rodríguez, Benjamín ; Puiggròs, Francesc...
Clinical Science.  133 (2019)  3 - p. 409-423 , 2019
Link: https://doi.org/10.1042/..
 
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13

Further delineation of the phenotype caused by loss of func..:

Valenzuela, Irene ; Segura-Puimedon, Maria ; Rodríguez-Santiago, Benjamín...
European Journal of Medical Genetics.  62 (2019)  3 - p. 182-185 , 2019
Link: https://doi.org/10.1016/..
 
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14

High Incidence of Copy Number Variants in Adults with Intel..:

Viñas-Jornet, Marina ; Esteba-Castillo, Susanna ; Baena, Neus...
Behavior Genetics.  48 (2018)  4 - p. 323-336 , 2018
Link: https://doi.org/10.1007/..
 
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15

P1‐146: WHOLE EXOME SEQUENCING IN PATIENTS WITH EARLY‐ONSET..:

Lladó, Albert ; Sanchez-Valle, Raquel ; Falgas, Neus...
Alzheimer's & Dementia.  14 (2018)  7S_Part_6 - p. , 2018
Link: https://doi.org/10.1016/..
 
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