E-LIB Suche - Ergebnisse für: López-Grondona, Fermina

1

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 1..:

Fernández-Caballero, Lidia ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2913 , 2024

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

2

Attention Deficit Hyperactivity and Autism Spectrum Disorde..:

Sanchez-Jimeno, Carolina ; Blanco-Kelly, Fiona ; López-Grondona, Fermina...
Genes. 12 (2021) 9 - p. 1360 , 2021

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

3

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/..

4

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic..:

Santos-Simarro, Fernando ; Pacio, Marta ; Cueto-González, Anna María...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104338 , 2021

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

5

Comparative genomic hybridisation as a first option in gene..:

Castells-Sarret, Neus ; Cueto-González, Anna M. ; Borregan, Mar...
Anales de Pediatría (English Edition). 89 (2018) 1 - p. 3-11 , 2018

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

6

Array CGH como primera opción en el diagnóstico genético: 1..:

Castells-Sarret, Neus ; Cueto-González, Anna M. ; Borregan, Mar...
Anales de Pediatría. 89 (2018) 1 - p. 3-11 , 2018

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

7

Toward clinical and molecular dissection of frontonasal dys..:

Lehalle, Daphné ; Bruel, Ange‐Line ; Vitobello, Antonio...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2036-2047 , 2022

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

8

Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Mul..:

Manchola-Linero, Alejandra ; Gran Ipiña, Ferran ; Teixidó-Tura, Gisela...
Revista Española de Cardiología (English Edition). 71 (2018) 7 - p. 585-587 , 2018

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

9

Terminal deletion of the chromosome 7(q36–qter) in an infan..:

Rodríguez, Laura ; Cuadrado Pérez, Irene ; Herrera Montes, Juana...
American Journal of Medical Genetics. 110 (2002) 1 - p. 73-77 , 2002

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

10

The recurrent TCF4 missense variant p.( Arg389Cys ) causes ..:

Popp, Bernt ; Bienvenu, Thierry ; Giurgea, Irina...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14206. , 2022

Link: https://inserm.hal.scien..

11

The recurrent TCF4 missense variant p.(Arg389Cys) causes a ..:

Popp, Bernt ; Bienvenu, Thierry ; Giurgea, Irina...
https://boris.unibe.ch/171667/. , 2022

Link: https://boris.unibe.ch/1..

12

The recurrent TCF4 missense variant p.( Arg389Cys ) causes ..:

Popp, Bernt ; Bienvenu, Thierry ; Giurgea, Irina...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14206. , 2022

Link: https://inserm.hal.scien..

13

The recurrent TCF4 missense variant p.( Arg389Cys ) causes ..:

Popp, Bernt ; Bienvenu, Thierry ; Giurgea, Irina...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14206. , 2022

Link: https://inserm.hal.scien..

14

Systematic Collaborative Reanalysis of Genomic Data Improve..:

Bullich Vilanova, Gemma ; Matalonga, Leslie ; Pujadas, Montserrat...
European Commission 305444. , 2022

Link: https://ddd.uab.cat/reco..

15

The recurrent TCF4 missense variant p.( Arg389Cys ) causes ..:

Popp, Bernt ; Bienvenu, Thierry ; Giurgea, Irina...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14206. , 2022

Link: https://inserm.hal.scien..