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Bleda, Marta
126
results:
Search for persons
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Online (126)
Mediatypes
Articles (Online) (33)
OpenAccess-fulltext (93)
Languages
english (102)
spanish (13)
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?
1
Sex, Genotype, and Liver Volume Progression as Risk of Hosp..:
Schönauer, Ria
;
Sierks, Dana
;
Boerrigter, Melissa
...
Gastroenterology. 166 (2024) 5 - p. 902-914 , 2024
Link:
https://doi.org/10.1053/..
?
2
Copy-number analysis from genome sequencing data of 11,754 ..:
Olinger, Eric
;
Wilson, Ian J.
;
Orr, Sarah
...
Genetics in Medicine Open. 2 (2024) - p. 101834 , 2024
Link:
https://doi.org/10.1016/..
?
3
Rare variants in the sodium-dependent phosphate transporter..:
Sadeghi-Alavijeh, Omid
;
Chan, Melanie M.Y.
;
Moochhala, Shabbir H.
...
Kidney International. 104 (2023) 5 - p. 975-984 , 2023
Link:
https://doi.org/10.1016/..
?
4
Widespread genomic influences on phenotype in Dravet syndro..:
Martins Custodio, Helena
;
Clayton, Lisa M
;
Bellampalli, Ravishankara
...
Brain. 146 (2023) 9 - p. 3885-3897 , 2023
Link:
https://doi.org/10.1093/..
?
5
Functional genomics provide key insights to improve the dia..:
Chen, Zhongbo
;
Tucci, Arianna
;
Cipriani, Valentina
...
Brain. 146 (2023) 7 - p. 2869-2884 , 2023
Link:
https://doi.org/10.1093/..
?
6
Unexpected frequency of the pathogenic AR CAG repeat expans..:
Zanovello, Matteo
;
Ibáñez, Kristina
;
Brown, Anna-Leigh
...
Brain. 146 (2023) 7 - p. 2723-2729 , 2023
Link:
https://doi.org/10.1093/..
?
7
Publisher Correction: Signatures of TOP1 transcription-asso..:
Reijns, Martin A. M.
;
Parry, David A.
;
Williams, Thomas C.
...
Nature. 605 (2022) 7910 - p. E7-E7 , 2022
Link:
https://doi.org/10.1038/..
?
8
Signatures of TOP1 transcription-associated mutagenesis in ..:
Reijns, Martin A. M.
;
Parry, David A.
;
Williams, Thomas C.
...
Nature. 602 (2022) 7898 - p. 623-631 , 2022
Link:
https://doi.org/10.1038/..
?
9
A systematic CRISPR screen defines mutational mechanisms un..:
Zou, Xueqing
;
Koh, Gene Ching Chiek
;
Nanda, Arjun Scott
...
Nature Cancer. 2 (2021) 6 - p. 643-657 , 2021
Link:
https://doi.org/10.1038/..
?
10
Biallelic variants of ATP13A3 cause dose-dependent childhoo..:
Machado, Rajiv D
;
Welch, Carrie L
;
Haimel, Matthias
...
Journal of Medical Genetics. 59 (2021) 9 - p. 906-911 , 2021
Link:
https://doi.org/10.1136/..
?
11
Evaluating the performance of a clinical genome sequencing ..:
Hyder, Zerin
;
Calpena, Eduardo
;
Pei, Yang
...
Genetics in Medicine. 23 (2021) 12 - p. 2360-2368 , 2021
Link:
https://doi.org/10.1038/..
?
12
Spectrum of mutational signatures in T-cell lymphoma reveal..:
Jones, Christine L.
;
Degasperi, Andrea
;
Grandi, Vieri
...
Scientific Reports. 11 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
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13
The ADAMTS13–VWF axis is dysregulated in chronic thromboemb..:
Newnham, Michael
;
South, Kieron
;
Bleda, Marta
...
European Respiratory Journal. 53 (2019) 3 - p. 1801805 , 2019
Link:
https://doi.org/10.1183/..
?
14
Genetic determinants of risk in pulmonary arterial hyperten..:
Rhodes, Christopher J
;
Batai, Ken
;
Bleda, Marta
...
The Lancet Respiratory Medicine. 7 (2019) 3 - p. 227-238 , 2019
Link:
https://doi.org/10.1016/..
?
15
Identification of rare sequence variation underlying herita..:
Gräf, Stefan
;
Haimel, Matthias
;
Bleda, Marta
...
Nature Communications. 9 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1038/..
1-15