Detalles de la búsqueda
1.
Long-Term Effects of Inspiratory Muscle Training in Institutionalized Elderly Women: A Double-Blind Randomized Controlled Trial.
Gerontology
; 69(1): 30-36, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36282072
2.
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
J Transl Med
; 18(1): 73, 2020 02 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32050993
3.
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Int J Mol Sci
; 21(24)2020 Dec 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33302505
4.
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
BMC Med Genet
; 16: 89, 2015 Oct 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26437850
5.
Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.
Mob DNA
; 15(1): 9, 2024 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38704576
6.
Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.
Front Cell Dev Biol
; 11: 1197744, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37547476
7.
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
NPJ Genom Med
; 7(1): 17, 2022 Mar 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35246562
8.
Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.
Eur J Ophthalmol
; 32(5): NP77-NP81, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-33866859
9.
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
Sci Rep
; 8(1): 13312, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30190494
10.
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Sci Rep
; 7: 41937, 2017 02 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28157192
11.
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.
BMC Med Genomics
; 8: 83, 2015 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-26690675
Resultados
1 -
11
de 11
1
Próxima >
>>