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Madrigal, Irene
182  results:
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1

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/..
 
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2

A novel NONO nonsense variant in a fetus with renal abnorma..:

Rodriguez‐Revenga, Laia ; Nadal, Alfons ; Borobio, Virginia...
Prenatal Diagnosis.  44 (2023)  1 - p. 77-80 , 2023
Link: https://doi.org/10.1002/..
 
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3

Editorial for the Molecular Mechanisms in Neurodevelopmenta..:

Madrigal, Irene
Genes.  14 (2023)  9 - p. 1762 , 2023
Link: https://doi.org/10.3390/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

Transcriptomic study in explanted liver from a patient with..:

To‐Figueras, Jordi ; Titos, Esther ; Aguilera, Paula...
JIMD Reports.  64 (2022)  1 - p. 10-16 , 2022
Link: https://doi.org/10.1002/..
 
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8

In vitro activity of essential oils against microbial isola..:

Gómez-García, Manuel ; Madrigal, Irene ; Puente, Héctor...
Natural Product Research.  36 (2021)  17 - p. 4546-4550 , 2021
Link: https://doi.org/10.1080/..
 
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9

The Contribution of QF-PCR and Pathology Studies in the Dia..:

Benítez, Leticia ; Pauta, Montse ; Badenas, Cèlia...
Diagnostics.  11 (2021)  10 - p. 1811 , 2021
Link: https://doi.org/10.3390/..
 
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10

Significance of Low Maternal Serum Β-hCG Levels in the Asse..:

Wijngaard, Robin ; Casals, Elena ; Mercadé, Imma...
Fetal Diagnosis and Therapy.  48 (2021)  11-12 - p. 849-856 , 2021
Link: https://doi.org/10.1159/..
 
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11

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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12

Role of mitochondrial DNA variants in the development of fr..:

Alvarez-Mora, Maria Isabel ; Santos, Cristina ; Carreño-Gago, Lidia...
Mitochondrion.  52 (2020)  - p. 157-162 , 2020
Link: https://doi.org/10.1016/..
 
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13

Chromosome microarray analysis should be offered to all inv..:

Rodriguez‐Revenga, Laia ; Madrigal, Irene ; Borrell, Antoni...
Clinical Genetics.  98 (2020)  4 - p. 379-383 , 2020
Link: https://doi.org/10.1111/..
 
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14

Fragile X‐associated tremor/ataxia syndrome: Regional decre..:

Alvarez‐Mora, Maria I. ; Podlesniy, Petar ; Gelpi, Ellen...
Genes, Brain and Behavior.  18 (2019)  5 - p. , 2019
Link: https://doi.org/10.1111/..
 
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15

Paternal transmission of aFMR1full mutation allele:

Alvarez‐Mora, Maria Isabel ; Guitart, Miriam ; Rodriguez‐Revenga, Laia...
American Journal of Medical Genetics Part A.  173 (2017)  10 - p. 2795-2797 , 2017
Link: https://doi.org/10.1002/..
 
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