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Ramos-Trujillo, Elena
421  Ergebnisse:
Personensuche X
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1

Enfermedades renales que cursan con hipomagnesemia. Comenta..:

Garcia-Nieto, Víctor M. ; Claverie-Martin, Félix ; Moraleda-Mesa, Teresa...
Nefrología.  44 (2024)  1 - p. 23-31 , 2024
Link: https://doi.org/10.1016/..
 
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2

Renal diseases that course with hypomagnesemia. Comments on..:

Garcia-Nieto, Víctor M. ; Claverie-Martin, Félix ; Moraleda-Mesa, Teresa...
Nefrología (English Edition).  44 (2024)  1 - p. 23-31 , 2024
Link: https://doi.org/10.1016/..
 
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3

Characterization of pre-mRNA Splicing Defects Caused by CLC..:

Mura-Escorche, Glorián ; Perdomo-Ramírez, Ana ; Ramos-Trujillo, Elena..
Biomedicines.  11 (2023)  11 - p. 3082 , 2023
Link: https://doi.org/10.3390/..
 
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4

Genotypic variability in patients with clinical diagnosis o..:

García-Castaño, Alejandro ; Gómez-Conde, Sara ; Gondra, Leire...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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5

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) ..:

Perdomo-Ramirez, Ana ; Cordoba-Lanus, Elizabeth ; Trujillo-Frias, Carmen Jane...
International Journal of Molecular Sciences.  24 (2023)  9 - p. 8455 , 2023
Link: https://doi.org/10.3390/..
 
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6

New SLC22A12 (URAT1) Variant Associated with Renal Hypouric..:

Perdomo-Ramírez, Ana ; Ramos-Trujillo, Elena ; Claverie-Martín, Félix
Genes.  14 (2023)  9 - p. 1823 , 2023
Link: https://doi.org/10.3390/..
 
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7

La gota asociada a reducción de la excreción renal de ácido..:

García-Nieto, Víctor M. ; Claverie-Martín, Félix ; Moraleda-Mesa, Teresa...
Nefrología.  42 (2022)  3 - p. 273-279 , 2022
Link: https://doi.org/10.1016/..
 
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8

Gout associated with reduced renal excretion of uric acid. ..:

García-Nieto, Víctor M. ; Claverie-Martín, Félix ; Moraleda-Mesa, Teresa...
Nefrología (English Edition).  42 (2022)  3 - p. 273-279 , 2022
Link: https://doi.org/10.1016/..
 
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9

Two new missense mutations in the protein interaction ASH d..:

Perdomo-Ramirez, Ana ; Antón-Gamero, Montserrat ; Sakaguchi Rizzo, Daniela...
Intractable & Rare Diseases Research.  9 (2020)  4 - p. 222-228 , 2020
Link: https://doi.org/10.5582/..
 
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10

Consideraciones acerca de las bases moleculares de algunas ..:

García-Nieto, Víctor M. ; Claverie-Martín, Félix ; Perdomo-Ramírez, Ana...
Nefrología.  40 (2020)  2 - p. 126-132 , 2020
Link: https://doi.org/10.1016/..
 
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11

Considerations about the molecular basis of some kidney tub..:

García-Nieto, Víctor M. ; Claverie-Martín, Félix ; Perdomo-Ramírez, Ana...
Nefrología (English Edition).  40 (2020)  2 - p. 126-132 , 2020
Link: https://doi.org/10.1016/..
 
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12

Exonic CLDN16 mutations associated with familial hypomagnes..:

Perdomo-Ramirez, Ana ; de Armas-Ortiz, Marian ; Ramos-Trujillo, Elena..
BMC Medical Genetics.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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13

Characterization of two novel mutations in the claudin-16 a..:

Perdomo-Ramirez, Ana ; Aguirre, Mireia ; Davitaia, Tinatin...
Gene.  689 (2019)  - p. 227-234 , 2019
Link: https://doi.org/10.1016/..
 
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14

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syn..:

Suarez-Artiles, Lorena ; Perdomo-Ramirez, Ana ; Ramos-Trujillo, Elena.
Genes.  9 (2018)  1 - p. 15 , 2018
Link: https://doi.org/10.3390/..
 
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15

Three exonic mutations in polycystic kidney disease-2 gene ..:

Gonzalez-Paredes, Francisco J. ; Ramos-Trujillo, Elena ; Claverie-Martin, Felix
Gene.  578 (2016)  1 - p. 117-123 , 2016
Link: https://doi.org/10.1016/..
 
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