Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 6
Results: 24
miRvar: A comprehensive database for genomic variations in microRNAs.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2226, doi. 10.1002/humu.21482
- By:
- Publication type:
- Article
The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 696, doi. 10.1002/humu.21493
- By:
- Publication type:
- Article
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 598, doi. 10.1002/humu.21475
- By:
- Publication type:
- Article
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 579, doi. 10.1002/humu.21406
- By:
- Publication type:
- Article
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase ( IDUA) alleles.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2189, doi. 10.1002/humu.21479
- By:
- Publication type:
- Article
Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 643, doi. 10.1002/humu.21486
- By:
- Publication type:
- Article
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2211, doi. 10.1002/humu.21481
- By:
- Publication type:
- Article
Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A ( GLA) deletions causing Fabry disease.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 688, doi. 10.1002/humu.21474
- By:
- Publication type:
- Article
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2246, doi. 10.1002/humu.21485
- By:
- Publication type:
- Article
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2176, doi. 10.1002/humu.21478
- By:
- Publication type:
- Article
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 653, doi. 10.1002/humu.21489
- By:
- Publication type:
- Article
Comparison of Programs for in silico Assessment of Missense Substitutions.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. v, doi. 10.1002/humu.21532
- By:
- Publication type:
- Article
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 678, doi. 10.1002/humu.21495
- By:
- Publication type:
- Article
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 669, doi. 10.1002/humu.21488
- By:
- Publication type:
- Article
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 610, doi. 10.1002/humu.21480
- By:
- Publication type:
- Article
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 661, doi. 10.1002/humu.21490
- By:
- Publication type:
- Article
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 573, doi. 10.1002/humu.21507
- By:
- Publication type:
- Article
Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2148, doi. 10.1002/humu.21477
- By:
- Publication type:
- Article
Classical Investigation of Incomplete Collagen C-propeptide Processing Reveals a Distinctive High Bone Mass OI Phenotype.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. v, doi. 10.1002/humu.21531
- By:
- Publication type:
- Article
Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 698, doi. 10.1002/humu.21473
- By:
- Publication type:
- Article
Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 633, doi. 10.1002/humu.21484
- By:
- Publication type:
- Article
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 590, doi. 10.1002/humu.21455
- By:
- Publication type:
- Article
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 620, doi. 10.1002/humu.21483
- By:
- Publication type:
- Article
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2134, doi. 10.1002/humu.21476
- By:
- Publication type:
- Article