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1.
Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing.
BMC Med Genet
; 18(1): 106, 2017 10 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28969599
2.
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
Neurogenetics
; 15(3): 171-82, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24816431
3.
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
BMC Med Genet
; 15: 46, 2014 Apr 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-24767429
4.
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.
BMC Med Genet
; 14: 72, 2013 Jul 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-23865914
5.
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.
Hum Mutat
; 33(11): 1610-5, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22730194
6.
Active spice-derived components can inhibit inflammatory responses of adipose tissue in obesity by suppressing inflammatory actions of macrophages and release of monocyte chemoattractant protein-1 from adipocytes.
Life Sci
; 80(10): 926-31, 2007 Feb 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-17196622
7.
Patterns of gene expression associated with Pten deficiency in the developing inner ear.
PLoS One
; 9(6): e97544, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24893171
8.
Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.
PLoS One
; 9(1): e86664, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24489763
9.
Conditional deletion of pten leads to defects in nerve innervation and neuronal survival in inner ear development.
PLoS One
; 8(2): e55609, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23393595
10.
Genome-wide SNP-based linkage analysis for ADNSHL families identifies novel susceptibility loci with positive evidence for linkage.
Genes Genet Syst
; 86(2): 117-21, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21670551
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