E-LIB Suche - Ergebnisse für: Martínez-Gil, Núria

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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

Martínez-Gil, Núria ; Ovejero, Diana ; Garcia Giralt, Natàlia...
Reproducció del document publicat a: https://doi.org/10.1002/jbm4.10602. , 2022

Link: http://hdl.handle.net/24..

14

Wnt pathway extracellular components and their essential ro..:

Martínez-Gil, Núria ; Ugartondo, Nerea ; Grinberg Vaisman, Daniel Raúl.
Reproducció del document publicat a: https://doi.org/10.3390/genes13010138. , 2022

Link: http://hdl.handle.net/24..

15

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

Martínez-Gil, Núria ; Mellibovsky, Leonardo ; Manzano-López González, Demián...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8933671/. , 2022

Link: http://www.ncbi.nlm.nih...