Found: 23
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Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases.
- Published in:
- 2010
- By:
- Publication type:
- Other
Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. E1186, doi. 10.1002/humu.21201
- By:
- Publication type:
- Article
Inferring the functional effects of mutation through clusters of mutations in homologous proteins.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 264, doi. 10.1002/humu.21194
- By:
- Publication type:
- Article
A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 254, doi. 10.1002/humu.21182
- By:
- Publication type:
- Article
CanProVar: a human cancer proteome variation database.
- Published in:
- 2010
- By:
- Publication type:
- Other
Cell-free assay breakthrough for MLH1 variants.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. v, doi. 10.1002/humu.21217
- By:
- Publication type:
- Article
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 284, doi. 10.1002/humu.21187
- By:
- Publication type:
- Article
Cancer predisposing missense and protein truncating BARD1 mutations in non- BRCA1 or BRCA2 breast cancer families.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. E1175, doi. 10.1002/humu.21200
- By:
- Publication type:
- Article
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 279, doi. 10.1002/humu.21186
- By:
- Publication type:
- Article
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 335, doi. 10.1002/humu.21192
- By:
- Publication type:
- Article
αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 237, doi. 10.1002/humu.21179
- By:
- Publication type:
- Article
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 347, doi. 10.1002/humu.21193
- By:
- Publication type:
- Article
The Human Variome Project (HVP) 2009 Forum 'Towards Establishing Standards'.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 366, doi. 10.1002/humu.21175
- By:
- Publication type:
- Article
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 325, doi. 10.1002/humu.21191
- By:
- Publication type:
- Article
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 308, doi. 10.1002/humu.21189
- By:
- Publication type:
- Article
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. E1241, doi. 10.1002/humu.21203
- By:
- Publication type:
- Article
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 247, doi. 10.1002/humu.21180
- By:
- Publication type:
- Article
A haplotype of the catalase gene confers an increased risk of essential hypertension in Chinese Han.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 272, doi. 10.1002/humu.21185
- By:
- Publication type:
- Article
Mutation clusters offer insight into predicting pathogenicity.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. v, doi. 10.1002/humu.21218
- By:
- Publication type:
- Article
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 356, doi. 10.1002/humu.21195
- By:
- Publication type:
- Article
Cell division cycle protein 73 homolog ( CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
- Published in:
- 2010
- By:
- Publication type:
- Other
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. E1200, doi. 10.1002/humu.21202
- By:
- Publication type:
- Article
Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 317, doi. 10.1002/humu.21190
- By:
- Publication type:
- Article