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Sánchez-Monteagudo, Ana
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1

Clinical, biochemical and molecular characterization of Wil..:

Lafhal, Karima ; Sabir, Es-said ; Hakmaoui, Abdelmalek...
Molecular Genetics and Metabolism Reports.  36 (2023)  - p. 100984 , 2023
Link: https://doi.org/10.1016/..
 
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2

Mutations, Genes, and Phenotypes Related to Movement Disord..:

Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Sancho, Paula...
International Journal of Molecular Sciences.  23 (2022)  19 - p. 11847 , 2022
Link: https://doi.org/10.3390/..
 
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3

Expanding the β-III Spectrin-Associated Phenotypes toward N..:

Sancho, Paula ; Andrés-Bordería, Amparo ; Gorría-Redondo, Nerea...
International Journal of Molecular Sciences.  22 (2021)  5 - p. 2505 , 2021
Link: https://doi.org/10.3390/..
 
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4

Wilson's Disease: Facing the Challenge of Diagnosing a Rare..:

Sánchez-Monteagudo, Ana ; Ripollés, Edna ; Berenguer, Marina.
Biomedicines.  9 (2021)  9 - p. 1100 , 2021
Link: https://doi.org/10.3390/..
 
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5

Wilson disease: revision of diagnostic criteria in a clinic..:

García-Villarreal, Luis ; Hernández-Ortega, Andrea ; Sánchez-Monteagudo, Ana...
Journal of Gastroenterology.  56 (2020)  1 - p. 78-89 , 2020
Link: https://doi.org/10.1007/..
 
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6

A very mild phenotype of Charcot-Marie-Tooth disease type 4..:

Argente-Escrig, Herminia ; Sánchez-Monteagudo, Ana ; Frasquet, Marina...
Journal of the Neurological Sciences.  402 (2019)  - p. 156-161 , 2019
Link: https://doi.org/10.1016/..
 
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7

Molecular and functional characterization of the BMPR2 gene..:

Pousada, Guillermo ; Lupo, Vincenzo ; Cástro-Sánchez, Sheila...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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8

A newly distal hereditary motor neuropathy caused by a rare..:

Sancho, Paula ; Sánchez-Monteagudo, Ana ; Collado, Antonio...
neurogenetics.  18 (2017)  4 - p. 245-250 , 2017
Link: https://doi.org/10.1007/..
 
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9

The impact of DNA methylation on CTCF-mediated 3D genome or..:

Monteagudo-Sánchez, Ana ; Noordermeer, Daan ; Greenberg, Maxim V. C.
Nature Structural & Molecular Biology.  31 (2024)  3 - p. 404-412 , 2024
Link: https://doi.org/10.1038/..
 
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10

Single-cell multi-omic analysis profiles defective genome a..:

Hernandez Mora, Jose Ramon ; Buhigas, Claudia ; Clark, Stephen...
Cell Reports.  42 (2023)  2 - p. 112100 , 2023
Link: https://doi.org/10.1016/..
 
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11

Conservation and divergence of canonical and non-canonical ..:

Richard Albert, Julien ; Kobayashi, Toshihiro ; Inoue, Azusa...
Genome Biology.  24 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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12

Vertical transmission of maternal DNA through extracellular..:

Moncayo-Arlandi, Javier ; Bolumar, David ; Gonzalez-Fernandez, Javier...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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13

Vertical transmission of maternal DNA through extracellular..:

Moncayo-Arlandi, Javier ; Bolumar, David ; Gonzalez-Fernandez, Javier...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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14

Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

The role of ZFP57 and additional KRAB-zinc finger proteins ..:

Monteagudo-Sánchez, Ana ; Hernandez Mora, Jose Ramon ; Simon, Carlos...
Nucleic Acids Research.  48 (2020)  20 - p. 11394-11407 , 2020
Link: https://doi.org/10.1093/..
 
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