Search details
1.
UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays.
Bioinformatics
; 29(12): 1562-4, 2013 Jun 15.
Article
in English
| MEDLINE | ID: mdl-23589652
2.
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Neurogenetics
; 13(3): 215-27, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22552817
3.
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Front Neurol
; 10: 1332, 2019.
Article
in English
| MEDLINE | ID: mdl-31920950
4.
Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence.
J Neurosci
; 27(28): 7418-28, 2007 Jul 11.
Article
in English
| MEDLINE | ID: mdl-17626202
5.
Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.
Invest Ophthalmol Vis Sci
; 48(2): 891-900, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-17251492
6.
Molecular Signatures of Primary Human Spermatogonial Progenitors and Its Neighboring Peritubular Stromal Compartment.
Stem Cells Dev
; 26(4): 263-273, 2017 02 15.
Article
in English
| MEDLINE | ID: mdl-27821019
7.
Analysis of blood-based gene expression in idiopathic Parkinson disease.
Neurology
; 89(16): 1676-1683, 2017 Oct 17.
Article
in English
| MEDLINE | ID: mdl-28916538
8.
A rapid microarray based whole genome analysis for detection of uniparental disomy.
Hum Mutat
; 26(2): 153-9, 2005 Aug.
Article
in English
| MEDLINE | ID: mdl-15968682
9.
Mayer-Rokitansky-Küster-Hauser syndrome discordance in monozygotic twins: matrix metalloproteinase 14, low-density lipoprotein receptor-related protein 10, extracellular matrix, and neoangiogenesis genes identified as candidate genes in a tissue-specific mosaicism.
Fertil Steril
; 103(2): 494-502.e3, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25492683
10.
Genome-wide UPD screening in patients with intellectual disability.
Eur J Hum Genet
; 22(10): 1233-5, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24801762
11.
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.
Orphanet J Rare Dis
; 6: 32, 2011 May 28.
Article
in English
| MEDLINE | ID: mdl-21619687
12.
Utilization of AFFX spike-in control probes to monitor sample identity throughout Affymetrix GeneChip Array processing.
Biotechniques
; 48(5): 371-8, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20569210
13.
Inhibition of glutathione-S-transferase as a treatment strategy for multidrug resistance in childhood rhabdomyosarcoma.
Int J Oncol
; 36(2): 491-500, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-20043085
14.
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.
Clin Chem
; 54(4): 682-7, 2008 Apr.
Article
in English
| MEDLINE | ID: mdl-18258667
15.
Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA.
Proteomics Clin Appl
; 2(5): 720-36, 2008 May.
Article
in English
| MEDLINE | ID: mdl-21136869
16.
Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein.
Neurogenetics
; 8(2): 71-81, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17318638
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