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Miriam Aza-Carmona
64
results:
Search for persons
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Format
Online (64)
Mediatypes
Articles (Online) (27)
OpenAccess-fulltext (37)
Languages
english (60)
spanish (3)
Sorted by: Relevance
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?
1
Increased prevalence of kidney cysts in individuals carryin..:
Furlano, Mónica
;
Pilco-Teran, Melissa
;
Pybus, Marc
...
Nephrology Dialysis Transplantation. , 2024
Link:
https://doi.org/10.1093/..
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2
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024
Link:
https://doi.org/10.1016/..
?
3
A Mild Presentation of X-Linked Hypophosphatemia Caused by ..:
Fraga, Gloria
;
Herreros, M. Alba
;
Pybus, Marc
...
Genes. 15 (2024) 6 - p. 679 , 2024
Link:
https://doi.org/10.3390/..
?
4
Characterization of three adults and an adolescent with Ost..:
Travessa, André M.
;
Dias, Patrícia
;
Rosmaninho-Salgado, Joana
...
European Journal of Medical Genetics. 66 (2023) 11 - p. 104867 , 2023
Link:
https://doi.org/10.1016/..
?
5
Clinical and Genetic Analysis of Multiple Osteochondromas i..:
Caino, Silvia
;
Cubilla, Marisa Angelica
;
Alba, Romina
...
Genes. 13 (2022) 11 - p. 2063 , 2022
Link:
https://doi.org/10.3390/..
?
6
Description of four patients with TRIP11 variants expand th..:
del Pino, Mariana
;
Sanchez-Soler, Maria José
;
Parrón-Pajares, Manuel
...
European Journal of Medical Genetics. 64 (2021) 5 - p. 104198 , 2021
Link:
https://doi.org/10.1016/..
?
7
Clinical consequences of BRCA2 hypomorphism:
Castells-Roca, Laia
;
Gutiérrez-Enríquez, Sara
;
Bonache, Sandra
...
npj Breast Cancer. 7 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
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8
High content drug screening for Fanconi anemia therapeutics:
Montanuy, Helena
;
Camps-Fajol, Cristina
;
Carreras-Puigvert, Jordi
...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
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9
Clinical and Molecular Description of 16 Families With Hete..:
Sentchordi-Montané, Lucía
;
Benito-Sanz, Sara
;
Aza-Carmona, Miriam
...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 8 - p. 2654-2666 , 2020
Link:
https://doi.org/10.1210/..
?
10
Prenatal diagnosis of fetal skeletal dysplasias in a tertia..:
Illescas, Tamara
;
Mansilla, Elena
;
Herrero, Beatriz
...
European Journal of Obstetrics & Gynecology and Reproductive Biology. 250 (2020) - p. 209-215 , 2020
Link:
https://doi.org/10.1016/..
?
11
Decapping protein EDC4 regulates DNA repair and phenocopies..:
Hernández, Gonzalo
;
Ramírez, María José
;
Minguillón, Jordi
...
Nature Communications. 9 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1038/..
?
12
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 103 (2018) 2 - p. 221-231 , 2018
Link:
https://doi.org/10.1016/..
?
13
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:
Martin, Carol-Anne
;
Sarlós, Kata
;
Logan, Clare V.
...
The American Journal of Human Genetics. 103 (2018) 3 - p. 456 , 2018
Link:
https://doi.org/10.1016/..
?
14
Mutations in C-natriuretic peptide (NPPC): a novel cause of..:
Hisado-Oliva, Alfonso
;
Ruzafa-Martin, Alba
;
Sentchordi, Lucia
...
Genetics in Medicine. 20 (2018) 1 - p. 91-97 , 2018
Link:
https://doi.org/10.1038/..
?
15
Detectable clonal mosaicism in blood as a biomarker of canc..:
Reina-Castillón, Judith
;
Pujol, Roser
;
López-Sánchez, Marcos
...
Blood Advances. 1 (2017) 5 - p. 319-329 , 2017
Link:
https://doi.org/10.1182/..
1-15