Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 3
Results: 21
Non- USH2A mutations in USH2 patients.
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- Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004
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- Article
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
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- Human Mutation, 2012, v. 33, n. 3, p. E2317, doi. 10.1002/humu.22015
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- Article
A frequent somatic mutation in CD274 3′-UTR leads to protein over-expression in gastric cancer by disrupting miR-570 binding.
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- Human Mutation, 2012, v. 33, n. 3, p. 480, doi. 10.1002/humu.22014
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- Article
HGV2011: Personalized genomic medicine meets the incidentalome.
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- Human Mutation, 2012, v. 33, n. 3, p. 582, doi. 10.1002/humu.22008
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- Article
Olfactory cells aid in the understanding of neurodegenerative disorders.
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- Human Mutation, 2012, v. 33, n. 3, p. 5, doi. 10.1002/humu.22571
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- Article
Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells.
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- Human Mutation, 2012, v. 33, n. 3, p. 530, doi. 10.1002/humu.22010
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- Article
Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer.
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- Human Mutation, 2012, v. 33, n. 3, p. 551, doi. 10.1002/humu.22021
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- Article
Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91<sup> phox</sup> resulting in the rare X91<sup>+</sup> variant of chronic granulomatous disease.
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- Human Mutation, 2012, v. 33, n. 3, p. 471, doi. 10.1002/humu.22003
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- Article
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
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- Human Mutation, 2012, v. 33, n. 3, p. 485, doi. 10.1002/humu.22019
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- Article
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
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- Human Mutation, 2012, v. 33, n. 3, p. 476, doi. 10.1002/humu.22007
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Exome and genome analysis as a tool for disease identification and treatment: The 2011 human genome variation society scientific meeting.
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- Human Mutation, 2012, v. 33, n. 3, p. 586, doi. 10.1002/humu.22018
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Looks normal, but may not function properly: A 'new' mouse model for primary ciliary dyskinesia.
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- Human Mutation, 2012, v. 33, n. 3, p. 5, doi. 10.1002/humu.22570
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- Article
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
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- Human Mutation, 2012, v. 33, n. 3, p. 457, doi. 10.1002/humu.22020
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- Article
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1.
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- Human Mutation, 2012, v. 33, n. 3, p. 467, doi. 10.1002/humu.22002
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- Article
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells.
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- Human Mutation, 2012, v. 33, n. 3, p. 541, doi. 10.1002/humu.22013
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- Article
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
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- Human Mutation, 2012, v. 33, n. 3, p. 572, doi. 10.1002/humu.22017
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- Article
Static respiratory cilia associated with mutations in Dnahc11/ DNAH11: A mouse model of PCD.
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- Human Mutation, 2012, v. 33, n. 3, p. 495, doi. 10.1002/humu.22001
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- Article
Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations.
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- Human Mutation, 2012, v. 33, n. 3, p. 511, doi. 10.1002/humu.22005
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- Article
Genome-wide and gene-based association implicates FRMD6 in alzheimer disease.
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- Human Mutation, 2012, v. 33, n. 3, p. 521, doi. 10.1002/humu.22009
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A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
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- Human Mutation, 2012, v. 33, n. 3, p. 488, doi. 10.1002/humu.22000
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Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study.
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- Human Mutation, 2012, v. 33, n. 3, p. 561, doi. 10.1002/humu.22016
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- Article