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Abulí, Anna
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Online (70)
Mediatypes
Articles (Online) (28)
OpenAccess-fulltext (42)
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1
The diagnosis communication process in spinal muscular atro..:
Rovira-Moreno, Eulàlia
;
Abulí, Anna
;
Muñoz-Cabello, Patricia
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100825 , 2023
Link:
https://doi.org/10.1016/..
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2
Staying alert with polyhydramnios; an Ondine syndrome case:
Pellisé-Tintoré, Maria
;
Paltrinieri, Anna Lucia
;
Abulí, Anna
...
Case Reports in Perinatal Medicine. 12 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1515/..
?
3
SLC6A1 variant pathogenicity, molecular function and phenot..:
Stefanski, Arthur
;
Pérez-Palma, Eduardo
;
Brünger, Tobias
...
Brain. 146 (2023) 12 - p. 5198-5208 , 2023
Link:
https://doi.org/10.1093/..
?
4
An spanish study of secondary findings in families affected..:
Codina-Solà, Marta
;
Trujillano, Laura
;
Abulí, Anna
...
European Journal of Human Genetics. 31 (2022) 2 - p. 223-230 , 2022
Link:
https://doi.org/10.1038/..
?
5
A method for multiplexed full-length single-molecule sequen..:
Keraite, Ieva
;
Becker, Philipp
;
Canevazzi, Davide
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
6
Current Status of Genetic Counselling for Rare Diseases in ..:
Álvaro-Sánchez, Sara
;
Abreu-Rodríguez, Irene
;
Abulí, Anna
..
Diagnostics. 11 (2021) 12 - p. 2320 , 2021
Link:
https://doi.org/10.3390/..
?
7
Chromosomal microarray analysis in fetuses with central ner..:
Santirocco, Maddalena
;
Plaja, Alberto
;
Rodó, Carlota
...
Prenatal Diagnosis. 41 (2020) 1 - p. 123-135 , 2020
Link:
https://doi.org/10.1002/..
?
8
Beyond the disease itself: A cross‐cutting educational init..:
Rovira‐Moreno, Eulàlia
;
Abuli, Anna
;
Codina‐Sola, Marta
...
Journal of Genetic Counseling. 30 (2020) 3 - p. 693-700 , 2020
Link:
https://doi.org/10.1002/..
?
9
Utility of two SMN1 variants to improve spinal muscular atr..:
Alías, Laura
;
Bernal, Sara
;
Calucho, Maite
...
European Journal of Human Genetics. 26 (2018) 10 - p. 1554-1557 , 2018
Link:
https://doi.org/10.1038/..
?
10
Genetic Variants Associated with Colorectal Adenoma Suscept..:
Abulí, Anna
;
Castells, Antoni
;
Bujanda, Luis
...
PLOS ONE. 11 (2016) 4 - p. e0153084 , 2016
Link:
https://doi.org/10.1371/..
?
11
Whole-exome sequencing identifies rare pathogenic variants ..:
Esteban-Jurado, Clara
;
Vila-Casadesús, Maria
;
Garre, Pilar
...
Genetics in Medicine. 17 (2015) 2 - p. 131-142 , 2015
Link:
https://doi.org/10.1038/..
?
12
The transcription factor GATA6 enables self-renewal of colo..:
Whissell, Gavin
;
Montagni, Elisa
;
Martinelli, Paola
...
Nature Cell Biology. 16 (2014) 7 - p. 695-707 , 2014
Link:
https://doi.org/10.1038/..
?
13
The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorecta..:
Abulí, Anna
;
Bujanda, Luis
;
Muñoz, Jenifer
...
PLoS ONE. 9 (2014) 4 - p. e95022 , 2014
Link:
https://doi.org/10.1371/..
?
14
106 Implication of the 3′Utr Region of TGFβR1 With MSS HNPC..:
Xicola, Rosa M
;
Doyle, Brian J.
;
Rawson, Jamie
...
Gastroenterology. 144 (2013) 5 - p. S-25 , 2013
Link:
https://doi.org/10.1016/..
?
15
Genetic susceptibility variants associated with colorectal ..:
Abulí, Anna
;
Lozano, Juan José
;
Rodríguez-Soler, María
...
Carcinogenesis. 34 (2013) 10 - p. 2286-2291 , 2013
Link:
https://doi.org/10.1093/..
1-15