Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 6
Results: 23
KMeyeDB: a graphical database of mutations in genes that cause eye diseases.
- Published in:
- 2010
- By:
- Publication type:
- Other
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 710, doi. 10.1002/humu.21251
- By:
- Publication type:
- Article
Usher Syndrome Splicing Variants Evaluated in Nasal Epithelial Cells.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. v, doi. 10.1002/humu.21291
- By:
- Publication type:
- Article
Role of SFRS13A in low-density lipoprotein receptor splicing.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 702, doi. 10.1002/humu.21244
- By:
- Publication type:
- Article
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 734, doi. 10.1002/humu.21255
- By:
- Publication type:
- Article
Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 685, doi. 10.1002/humu.21248
- By:
- Publication type:
- Article
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
- Published in:
- 2010
- By:
- Publication type:
- Other
The Mutome and the 100,000 Mutation Milestone.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. v, doi. 10.1002/humu.21290
- By:
- Publication type:
- Article
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 742, doi. 10.1002/humu.21254
- By:
- Publication type:
- Article
An interactive web-tool for molecular analyses links naturally occurring mutation data with three-dimensional structures of the rhodopsin-like glycoprotein hormone receptors.
- Published in:
- 2010
- By:
- Publication type:
- Other
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 752, doi. 10.1002/humu.21258
- By:
- Publication type:
- Article
Are we overestimating the penetrance of mutations in SDHB?
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 761, doi. 10.1002/humu.21269
- By:
- Publication type:
- Article
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 631, doi. 10.1002/humu.21260
- By:
- Publication type:
- Article
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. E1506, doi. 10.1002/humu.21271
- By:
- Publication type:
- Article
Performance of protein stability predictors.
- Published in:
- 2010
- By:
- Publication type:
- Other
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 722, doi. 10.1002/humu.21253
- By:
- Publication type:
- Article
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. E1461, doi. 10.1002/humu.21257
- By:
- Publication type:
- Article
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. E1472, doi. 10.1002/humu.21268
- By:
- Publication type:
- Article
The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 623, doi. 10.1002/humu.21252
- By:
- Publication type:
- Article
Predicting functional significance of cancer-associated p16<sup>INK4a</sup> mutations in CDKN2A.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 692, doi. 10.1002/humu.21245
- By:
- Publication type:
- Article
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. E1445, doi. 10.1002/humu.21256
- By:
- Publication type:
- Article
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. E1484, doi. 10.1002/humu.21267
- By:
- Publication type:
- Article
Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. E1436, doi. 10.1002/humu.21238
- By:
- Publication type:
- Article