E-LIB Suche - Ergebnisse für: Pié, Juan

1

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/..

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

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/..

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

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/..

6

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/..

7

Cornelia de Lange syndrome and cancer: An open question:

Pallotta, Maria M. ; Di Nardo, Maddalena ; Hennekam, Raoul C. M....
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 292-295 , 2022

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

8

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/..

9

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/..

10

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Diso..:

Tenorio-Castaño, Jair ; Morte, Beatriz ; Nevado, Julián...
Genes. 12 (2021) 5 - p. 738 , 2021

Link: https://doi.org/10.3390/..

11

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/..

12

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/..

13

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/..

14

MAU2 and NIPBL Variants Impair the Heterodimerization of th..:

Parenti, Ilaria ; Diab, Farah ; Gil, Sara Ruiz...
Cell Reports. 31 (2020) 7 - p. 107647 , 2020

Link: https://doi.org/10.1016/..

15

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/..