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1.
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Hum Mutat;
29(3): 451, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18273898
2.
Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.
Mutat Res;
637(1-2): 56-65, 2008 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-17765268
3.
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.
Neuromuscul Disord;
27(7): 619-626, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28479227
4.
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Mol Genet Genomic Med;
4(5): 527-539, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27957503
5.
Genetic variability among isolates of Listeria monocytogenes from food products, clinical samples and processing environments, estimated by RAPD typing.
Int J Food Microbiol;
84(3): 285-97, 2003 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-12810292
6.
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction.
PLoS One;
6(8): e22968, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21886772
7.
Intensity dependent confidence intervals on microarray measurements of differentially expressed genes: a case study of the effect of MK5, FKRP and TAF4 on the transcriptome.
Gene Regul Syst Bio;
1: 57-72, 2007 Jul 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-19936079
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