E-LIB Suche - Ergebnisse für: Abulí, Anna

1

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/..

2

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/..

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

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/..

8

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/..

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

NGS-Based Assay for the Identification of Individuals Carry..:

Abulí, Anna ; Boada, Montserrat ; Rodríguez-Santiago, Benjamín...
Human Mutation. 37 (2016) 6 - p. 516-523 , 2016

Link: https://doi.org/10.1002/..

12

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/..

13

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/..

14

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/..

15

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/..