E-LIB Suche - Ergebnisse für: Amiñoso, Cinthia

1

Genetic analysis of 76 Spanish Pompe disease patients: Iden..:

Amiñoso, Cinthia ; Solera, Jesús
Gene. 808 (2022) - p. 145967 , 2022

2

New mutations associated with Hirschsprung disease:

Lorente-Ros, Marta ; Andrés, Ane Miren ; Sánchez-Galán, Alba...
Anales de Pediatría (English Edition). 93 (2020) 4 - p. 222-227 , 2020

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

3

Reevaluating the pathogenicity of the mutation c.1194 +5 G>..:

Amiñoso, Cinthia ; Gordillo-Marañón, María ; Hernández, Jaime.
Neuromuscular Disorders. 29 (2019) 3 - p. 187-191 , 2019

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

4

Identification of the first deletion–insertion involving th..:

Amiñoso, Cinthia ; Vallespin, Elena ; Fernández, Luís...
Gene. 519 (2013) 1 - p. 169-172 , 2013

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

5

DNA methylation of multiple promoter-associated CpG islands..:

Bello, M. Josefa ; Amiñoso, Cinthia ; Lopez-Marin, Isabel...
Acta Neuropathologica. 108 (2004) 5 - p. 413-421 , 2004

Link: https://doi.org/10.1007/..

6

Genetic and epigenetic alteration of the NF2 gene in sporad..:

Lomas, Jesus ; Bello, M. Josefa ; Arjona, Dolores...
Genes, Chromosomes and Cancer. 42 (2004) 3 - p. 314-319 , 2004

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

7

Hypermethylation of the DNA repair gene MGMT: association w..:

Bello, M.Josefa ; Alonso, M.Eva ; Amiñoso, Cinthia...
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 554 (2004) 1-2 - p. 23-32 , 2004

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

8

Methylation status of TP73 in meningiomas:

Lomas, Jesus ; Amiñoso, Cinthia ; Gonzalez-Gomez, Pilar...
Cancer Genetics and Cytogenetics. 148 (2004) 2 - p. 148-151 , 2004

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

9

CpG island methylation of tumor-related genes in three prim..:

Gonzalez-Gomez, Pilar ; Bello, M.Josefa ; Arjona, Dolores...
Cancer Genetics and Cytogenetics. 142 (2003) 1 - p. 21-24 , 2003

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

10

New mutations associated with Hirschsprung disease ; Nuevas..:

Lorente-Ros, Marta ; Andrés, Ane Miren ; Sánchez-Galán, Alba...
Anales de Pediatria. , 2021

Link: http://hdl.handle.net/10..