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1

Correlation of FMR4 expression levels to ovarian reserve ma..:

Agusti, Ines ; Alvarez-Mora, Maria Isabel ; Wijngaard, Robin...
Journal of Ovarian Research. 17 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Evaluation of AQP4 functional variants and its association ..:

Elias-Mas, Andrea ; Potrony, Miriam ; Bague, Jaume...
Frontiers in Aging Neuroscience. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Implementation of Exome Sequencing in Clinical Practice for..:

Alvarez-Mora, María Isabel ; Rodríguez-Revenga, Laia ; Jodar, Meritxell...
Genes. 14 (2023) 4 - p. 813 , 2023

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

4

Exploration of SUMO2/3 Expression Levels and Autophagy Proc..:

Alvarez-Mora, Maria Isabel ; Garrabou, Glòria ; Molina-Porcel, Laura...
Cells. 12 (2023) 19 - p. 2364 , 2023

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

5

Reduced mtDNA Copy Number in the Prefrontal Cortex of C9ORF..:

Alvarez-Mora, Maria Isabel ; Podlesniy, Petar ; Riazuelo, Teresa...
Molecular Neurobiology. 59 (2022) 2 - p. 1230-1237 , 2022

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

6

Lethal Congenital Contracture Syndrome 11: A Case Report an..:

Potrony, Miriam ; Borrell, Antoni ; Masoller, Narcís...
Journal of Clinical Medicine. 11 (2022) 13 - p. 3570 , 2022

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

7

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/..

8

Special Issue: Genetics of Psychiatric Disease and the Basi..:

Rodriguez-Revenga, Laia ; Alvarez-Mora, Maria Isabel
Genes. 13 (2022) 11 - p. 2008 , 2022

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

9

Creatine Kinase Elevation in Autosomal Dominant Polycystic ..:

Rodríguez-Espinosa, Diana ; Broseta, José Jesús ; Bastida, Carla...
Nephron. 147 (2022) 3-4 - p. 152-157 , 2022

Link: https://doi.org/10.1159/..

10

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-..:

Alvarez-Mora, Maria Isabel ; Agusti, Ines ; Wijngaard, Robin...
Journal of Clinical Medicine. 11 (2022) 8 - p. 2186 , 2022

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

11

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/..

12

Diagnostic yield of next-generation sequencing in 87 famili..:

Álvarez-Mora, María Isabel ; Sánchez, Aurora ; Rodríguez-Revenga, Laia...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

13

Bioenergetic and Autophagic Characterization of Skin Fibrob..:

Alvarez-Mora, Maria Isabel ; Garrabou, Gloria ; Barcos, Tamara...
Antioxidants. 11 (2022) 6 - p. 1129 , 2022

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

14

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/..

15

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The R..:

Alvarez-Mora, Maria Isabel ; Corominas, Jordi ; Gilissen, Christian...
Genes. 12 (2021) 4 - p. 557 , 2021

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

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