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Madrigal, Irene
182
results:
Search for persons
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Format
Online (182)
Mediatypes
Articles (Online) (76)
Bookchapter (Online) (1)
OpenAccess-fulltext (105)
Languages
english (156)
spanish (12)
Sorted by: Relevance
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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/..
?
3
Editorial for the Molecular Mechanisms in Neurodevelopmenta..:
Madrigal, Irene
Genes. 14 (2023) 9 - p. 1762 , 2023
Link:
https://doi.org/10.3390/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
1-15