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Rabionet, Raquel
233  results:
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1

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac,..:

Palma-Milla, Carmen ; Prat-Planas, Aina ; Soengas-Gonda, Emma...
Pediatric Neurology.  155 (2024)  - p. 8-17 , 2024
Link: https://doi.org/10.1016/..
 
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2

High‐throughput RNA sequencing of the T cell receptor alpha..:

Blanco, Gonzalo ; López‐Aventín, Daniel ; Pujol, Ramon M....
Journal of Clinical Laboratory Analysis.  37 (2023)  23-24 - p. , 2023
Link: https://doi.org/10.1002/..
 
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3

On the association between Chiari malformation type 1, bone..:

Gil, Núria Martinez ; Mellibovsky, Leonardo ; Gonzalez, Demian Manzano-Lopez...
Bone Reports.  16 (2022)  - p. 101543 , 2022
Link: https://doi.org/10.1016/..
 
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4

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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5

Genetic analysis in a familial case with high bone mineral ..:

Gil, Núria Martinez ; Ovejero, Diana ; Garcia-Giralt, Natalia...
Bone Reports.  16 (2022)  - p. 101240 , 2022
Link: https://doi.org/10.1016/..
 
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6

Clinical description and genetic analysis of a novel famili..:

Ovejero, Diana ; Garcia-Giralt, Natalia ; Martínez-Gil, Núria...
Bone.  161 (2022)  - p. 116450 , 2022
Link: https://doi.org/10.1016/..
 
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7

On the association between Chiari malformation type 1, bone..:

Martínez-Gil, Núria ; Mellibovsky, Leonardo ; Manzano-López González, Demián...
Bone Reports.  16 (2022)  - p. 101181 , 2022
Link: https://doi.org/10.1016/..
 
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8

Advancing in Schaaf-Yang syndrome pathophysiology: from bed..:

Castilla-Vallmanya, Laura ; Centeno-Pla, Mónica ; Serrano, Mercedes...
Journal of Medical Genetics.  60 (2022)  4 - p. 406-415 , 2022
Link: https://doi.org/10.1136/..
 
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9

Gene Network of Susceptibility to Atypical Femoral Fracture..:

Garcia-Giralt, Natalia ; Roca-Ayats, Neus ; Abril, Josep F...
Genes.  13 (2022)  1 - p. 146 , 2022
Link: https://doi.org/10.3390/..
 
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10

Genetic Analysis in a Familial Case With High Bone Mineral ..:

Martínez‐Gil, Núria ; Ovejero, Diana ; Garcia‐Giralt, Natalia...
JBMR Plus.  6 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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11

Changes in the stool and oropharyngeal microbiome in obsess..:

Domènech, Laura ; Willis, Jesse ; Alemany-Navarro, Maria...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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12

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous..:

Castilla-Vallmanya, Laura ; Gürsoy, Semra ; Giray-Bozkaya, Özlem...
International Journal of Molecular Sciences.  22 (2021)  4 - p. 1549 , 2021
Link: https://doi.org/10.3390/..
 
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13

Efficient and flexible Integration of variant characteristi..:

Susak, Hana ; Serra-Saurina, Laura ; Demidov, German...
PLOS Computational Biology.  17 (2021)  2 - p. e1007784 , 2021
Link: https://doi.org/10.1371/..
 
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14

Functional characterization of CYP1A1 variants identified i..:

Ugartondo, Nerea ; Esteve, Monica ; Garcia-Giralt, Natalia...
Bone Reports.  14 (2021)  - p. 100935 , 2021
Link: https://doi.org/10.1016/..
 
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15

Functional Analyses of Four CYP1A1 Missense Mutations Prese..:

Ugartondo, Nerea ; Martínez-Gil, Núria ; Esteve, Mònica...
International Journal of Molecular Sciences.  22 (2021)  14 - p. 7395 , 2021
Link: https://doi.org/10.3390/..
 
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