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Puisac, Beatriz
135
results:
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Format
Online (135)
Mediatypes
Articles (Online) (40)
OpenAccess-fulltext (95)
Languages
english (113)
spanish (11)
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1
Assessment of Quality of Life Using the Kidslife Scale in I..:
Trujillano, Laura
;
Ayerza-Casas, Ariadna
;
Puisac, Beatriz
...
Cureus. , 2024
Link:
https://doi.org/10.7759/..
?
2
Espectro Cornelia de Lange:
Ascaso, Ángela
;
Arnedo, María
;
Puisac, Beatriz
...
Anales de Pediatría. 100 (2024) 5 - p. 352-362 , 2024
Link:
https://doi.org/10.1016/..
?
3
Cornelia de Lange Spectrum:
Ascaso, Ángela
;
Arnedo, María
;
Puisac, Beatriz
...
Anales de Pediatría (English Edition). 100 (2024) 5 - p. 352-362 , 2024
Link:
https://doi.org/10.1016/..
?
4
Heart Disease Characterization and Myocardial Strain Analys..:
Latorre-Pellicer, Ana
;
Trujillano, Laura
;
del Rincón, Julia
...
Journal of Clinical Medicine. 12 (2023) 12 - p. 4052 , 2023
Link:
https://doi.org/10.3390/..
?
5
Subclinical myocardial dysfunction is revealed by speckle t..:
Trujillano, Laura
;
Ayerza-Casas, Ariadna
;
Puisac, Beatriz
...
The International Journal of Cardiovascular Imaging. 38 (2022) 11 - p. 2291-2302 , 2022
Link:
https://doi.org/10.1007/..
?
6
Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What W..:
Arnedo, María
;
Ascaso, Ángela
;
Latorre-Pellicer, Ana
...
International Journal of Molecular Sciences. 23 (2022) 17 - p. 9649 , 2022
Link:
https://doi.org/10.3390/..
?
7
A Novel Intragenic Duplication in the HDAC8 Gene Underlying..:
Lucia-Campos, Cristina
;
Valenzuela, Irene
;
Latorre-Pellicer, Ana
...
Genes. 13 (2022) 8 - p. 1413 , 2022
Link:
https://doi.org/10.3390/..
?
8
Case report: A novel case of parental mosaicism in SMC1A ge..:
Gil-Salvador, Marta
;
Latorre-Pellicer, Ana
;
Lucia-Campos, Cristina
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
9
Things are not always what they seem: From Cornelia de Lang..:
Latorre‐Pellicer, Ana
;
Ascaso, Ángela
;
Lucia‐Campos, Cristina
...
Molecular Genetics & Genomic Medicine. 9 (2021) 11 - p. , 2021
Link:
https://doi.org/10.1002/..
?
10
Targeted Gene Sequencing, Bone Health, and Body Composition..:
Matute-Llorente, Ángel
;
Ascaso, Ángela
;
Latorre-Pellicer, Ana
...
Applied Sciences. 11 (2021) 2 - p. 710 , 2021
Link:
https://doi.org/10.3390/..
?
11
Clinical relevance of postzygotic mosaicism in Cornelia de ..:
Latorre-Pellicer, Ana
;
Gil-Salvador, Marta
;
Parenti, Ilaria
...
Scientific Reports. 11 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
12
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome prov..:
Garcia, Patricia
;
Fernandez-Hernandez, Rita
;
Cuadrado, Ana
...
Nature Communications. 12 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
13
Evaluating Face2Gene as a Tool to Identify Cornelia de Lang..:
Latorre-Pellicer, Ana
;
Ascaso, Ángela
;
Trujillano, Laura
...
International Journal of Molecular Sciences. 21 (2020) 3 - p. 1042 , 2020
Link:
https://doi.org/10.3390/..
?
14
The gene encoding the ketogenic enzyme HMGCS2 displays a un..:
Bagheri-Fam, Stefan
;
Chen, Huijun
;
Wilson, Sean
...
PLOS ONE. 15 (2020) 1 - p. e0227411 , 2020
Link:
https://doi.org/10.1371/..
?
15
Heterozygous de novo variants in CSNK1G1 are associated wit..:
Gold, Nina B.
;
Li, Dong
;
Chassevent, Anna
...
Clinical Genetics. 98 (2020) 6 - p. 571-576 , 2020
Link:
https://doi.org/10.1111/..
1-15