E-LIB Suche - Ergebnisse für: Jaijo, T.

1

Contribution of the NGS analysis to the hyperCKemia:

Marti, P. ; Muelas, N. ; Jaijo, T....
Neuromuscular Disorders. 27 (2017) - p. S196 , 2017

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

2

Phenotypic heterogeneity in two large Roma families with a ..:

Natera-de Benito, D. ; Domínguez-Carral, J. ; Muelas, N....
Neuromuscular Disorders. 26 (2016) 11 - p. 789-795 , 2016

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

3

Mutational spectrum of Duchenne muscular dystrophy in Spain..:

Gallano, P. ; Vieitez, I. ; Gonzalez-Quereda, L....
Neuromuscular Disorders. 26 (2016) - p. S95-S96 , 2016

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

4

PP09.7 – 2375: Phenotypic heterogeneity in two large Roma f..:

Benito, D. Natera-de ; Domínguez-Carral, J. ; Muelas, N....
European Journal of Paediatric Neurology. 19 (2015) - p. S66 , 2015

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

5

Long-term follow up of patients with dystrophin deficiency ..:

Marti, P. ; Muelas, N. ; Mayordomo, F....
Neuromuscular Disorders. 25 (2015) - p. S198-S199 , 2015

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

6

Genetics of the Charcot‐Marie‐Tooth disease in the Spanish ..:

Sevilla, T ; Martínez‐Rubio, D ; Márquez, C...
Clinical Genetics. 83 (2012) 6 - p. 565-570 , 2012

Link: https://doi.org/10.1111/..

7

Functional analysis of splicing mutations in MYO7A and USH2..:

Jaijo, T ; Aller, E ; Aparisi, MJ...
Clinical Genetics. 79 (2011) 3 - p. 282-288 , 2011

Link: https://doi.org/10.1111/..

8

Vocal cord paresis and diaphragmatic dysfunction are severe..:

Sevilla, T. ; Jaijo, T. ; Nauffal, D....
Brain. 131 (2008) 11 - p. 3051-3061 , 2008

Link: https://doi.org/10.1093/..

9

Mutation profile of theCDH23 gene in 56 probands with Usher..:

Oshima, A. ; Jaijo, T. ; Aller, E....
Human Mutation. 29 (2008) 6 - p. E37-E46 , 2008

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

10

Mutation profile of the MYO7A gene in Spanish patients with..:

Jaijo, T. ; Aller, E. ; Oltra, S....
Human Mutation. 27 (2006) 3 - p. 290-291 , 2006

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

11

Mutation screening of USH3 gene (clarin‐1) in Spanish patie..:

Aller, E ; Jaijo, T ; Oltra, S...
Clinical Genetics. 66 (2004) 6 - p. 525-529 , 2004

Link: https://doi.org/10.1111/..

12

Genetic landscape of 6089 inherited retinal dystrophies aff..:

Perea-Romero, I ; Gordo, G ; Iancu, I.F...
info:eu-repo/grantAgreement/ES/MSCBS-ISCIII-FIS/PI16-00425. , 2021

Link: http://zaguan.unizar.es/..

13

Genetic epidemiology of the Charcot-Marie-Tooth in the Span..:

Sevilla, T ; Martínez-Rubio, D ; Márquez, C...
Clinical Genetics. , 2013

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

14

A genetic basis for mechanosensory traits in humans:

Frenzel, H ; Bohlender, J ; Pinsker, K...
http://edoc.mdc-berlin.de/12364/1/12364oa.pdf. , 2012

Link: http://edoc.mdc-berlin.d..

15

Mutation Profile of the CDH23 Gene in 56 Probands with Ushe..:

Oshima, A ; Jaijo, T ; Aller, E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2399895. , 2008

Link: http://www.ncbi.nlm.nih...