Found: 20
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Epigenetics in facioscapulohumeral muscular dystrophy (FSHD).
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. v, doi. 10.1002/humu.21124
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- Publication type:
- Article
Genetic variations as cancer prognostic markers: review and update.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1369, doi. 10.1002/humu.21078
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- Publication type:
- Article
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1378, doi. 10.1002/humu.21079
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- Publication type:
- Article
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1387, doi. 10.1002/humu.21068
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- Publication type:
- Article
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1397, doi. 10.1002/humu.21074
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- Publication type:
- Article
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1406, doi. 10.1002/humu.21081
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- Publication type:
- Article
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1412, doi. 10.1002/humu.21089
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- Publication type:
- Article
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1419, doi. 10.1002/humu.21086
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- Publication type:
- Article
RFT1 deficiency in three novel CDG patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1428, doi. 10.1002/humu.21085
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- Publication type:
- Article
Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1435, doi. 10.1002/humu.21088
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- Publication type:
- Article
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1449, doi. 10.1002/humu.21091
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- Publication type:
- Article
Single nucleotide variation detection by ligation of universal probes on a 3D poyacrylamide gel DNA microarray.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1460, doi. 10.1002/humu.21080
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- Publication type:
- Article
The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1469, doi. 10.1002/humu.21097
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- Publication type:
- Article
Response to: The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1471, doi. 10.1002/humu.21098
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- Publication type:
- Article
PORCN mutations in focal dermal hypoplasia: coping with lethality.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1472, doi. 10.1002/humu.21125
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- Publication type:
- Article
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. E891, doi. 10.1002/humu.21082
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- Publication type:
- Article
The SCN1A variant database: a novel research and diagnostic tool.
- Published in:
- 2009
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- Publication type:
- Other
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. E921, doi. 10.1002/humu.21090
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- Publication type:
- Article
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. E936, doi. 10.1002/humu.21093
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- Publication type:
- Article
EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. E946, doi. 10.1002/humu.21094
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- Publication type:
- Article