Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 11
Results: 15
Improving the rigor of mutation reports: Biologic parentage and de novo mutations.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1501, doi. 10.1002/humu.22131
- By:
- Publication type:
- Article
A guide for functional analysis of BRCA1 variants of uncertain significance.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1526, doi. 10.1002/humu.22150
- By:
- Publication type:
- Article
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1610, doi. 10.1002/humu.22143
- By:
- Publication type:
- Article
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1589, doi. 10.1002/humu.22139
- By:
- Publication type:
- Article
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1557, doi. 10.1002/humu.22129
- By:
- Publication type:
- Article
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1503, doi. 10.1002/humu.22144
- By:
- Publication type:
- Article
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1599, doi. 10.1002/humu.22171
- By:
- Publication type:
- Article
Comprehensive functional assessment of MLH1 variants of unknown significance.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1576, doi. 10.1002/humu.22142
- By:
- Publication type:
- Article
Human variome project country nodes: Documenting genetic information within a country.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1513, doi. 10.1002/humu.22147
- By:
- Publication type:
- Article
The first human mitotic nonallelic homologous recombination hotspot associated with genetic disease.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. v, doi. 10.1002/humu.22585
- By:
- Publication type:
- Article
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1520, doi. 10.1002/humu.22141
- By:
- Publication type:
- Article
Review and update of SPRED1 mutations causing legius syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1538, doi. 10.1002/humu.22152
- By:
- Publication type:
- Article
CNVD: Text mining-based copy number variation in disease database.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. E2375, doi. 10.1002/humu.22163
- By:
- Publication type:
- Article
Oncogenic potential is related to activating effect of cancer single and double somatic mutations in receptor tyrosine kinases.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1566, doi. 10.1002/humu.22145
- By:
- Publication type:
- Article
ABCMdb: A database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general application.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1547, doi. 10.1002/humu.22138
- By:
- Publication type:
- Article