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Martínez‐Gil, Núria
58  results:
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1

Rare predicted deleterious FEZF2 variants are associated wi..:

Garber, Alison ; Weingarten, Lisa S. ; Abreu, Nicolas J....
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

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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3

Functional Assessment of Coding and Regulatory Variants Fro..:

Martínez‐Gil, Núria ; Roca‐Ayats, Neus ; Atalay, Nurgül...
JBMR Plus.  4 (2020)  12 - p. , 2020
Link: https://doi.org/10.1002/..
 
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4

Evolutionary and functional analyses of LRP5 in archaic and..:

Roca-Ayats, Neus ; Maceda, Iago ; Bruque, Carlos David...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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5

Pathogenic RAB34 variants impair primary cilium assembly an..:

Bruel, Ange-Line ; Ganga, Anil Kumar ; Nosková, Lenka...
Human Molecular Genetics.  32 (2023)  18 - p. 2822-2831 , 2023
Link: https://doi.org/10.1093/..
 
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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

Wnt Pathway Extracellular Components and Their Essential Ro..:

Martínez-Gil, Núria ; Ugartondo, Nerea ; Grinberg, Daniel.
Genes.  13 (2022)  1 - p. 138 , 2022
Link: https://doi.org/10.3390/..
 
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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

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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11

Genetics and Genomics of SOST: Functional Analysis of Varia..:

Martínez-Gil, Núria ; Roca-Ayats, Neus ; Cozar, Mónica...
International Journal of Molecular Sciences.  22 (2021)  2 - p. 489 , 2021
Link: https://doi.org/10.3390/..
 
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12

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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13

Functional assessment of coding and regulatory variants fro..:

Martínez-Gil, Núria ; Roca-Ayats, Neus ; Atalay, Nurgül...
Bone Reports.  13 (2020)  - p. 100348 , 2020
Link: https://doi.org/10.1016/..
 
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14

Functional characterization of the C7ORF76 genomic region, ..:

Roca-Ayats, Neus ; Martínez-Gil, Núria ; Cozar, Mónica...
Bone.  123 (2019)  - p. 39-47 , 2019
Link: https://doi.org/10.1016/..
 
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15

Common and rare variants of WNT16, DKK1 and SOST and their ..:

Martínez-Gil, Núria ; Roca-Ayats, Neus ; Monistrol-Mula, Anna...
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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