Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 8
Results: 18
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 966, doi. 10.1002/humu.21300
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- Publication type:
- Article
Molecular spectrum of SLC22A5 ( OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1632, doi. 10.1002/humu.21311
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- Publication type:
- Article
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 950, doi. 10.1002/humu.21292
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- Publication type:
- Article
Next Gen Exome Sequencing Reveals Mutations in a Rare Recessive Disorder.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. v, doi. 10.1002/humu.21319
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- Publication type:
- Article
dbCPCO: a database of genetic markers tested for their predictive and prognostic value in colorectal cancer.
- Published in:
- 2010
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- Publication type:
- Other
Type I hyperprolinemia: genotype/phenotype correlations.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 961, doi. 10.1002/humu.21296
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- Publication type:
- Article
Short rare MUC6 minisatellites-5 alleles influence susceptibility to gastric carcinoma by regulating gene.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 942, doi. 10.1002/humu.21289
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- Publication type:
- Article
Next-Gen Databasing Links Mutations with Prognosis and Clinical Outcome.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. v, doi. 10.1002/humu.21318
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- Publication type:
- Article
KvDB; mining and mapping sequence variants in voltage-gated potassium channels.
- Published in:
- 2010
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- Publication type:
- Other
ARX spectrum disorders: making inroads into the molecular pathology.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 889, doi. 10.1002/humu.21288
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- Publication type:
- Article
Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1594, doi. 10.1002/humu.21299
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- Publication type:
- Article
A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1609, doi. 10.1002/humu.21302
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- Publication type:
- Article
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 930, doi. 10.1002/humu.21294
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- Publication type:
- Article
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1587, doi. 10.1002/humu.21298
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- Publication type:
- Article
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 975, doi. 10.1002/humu.21301
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- Publication type:
- Article
The Alport syndrome COL4A5 variant database.
- Published in:
- 2010
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- Publication type:
- Other
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1622, doi. 10.1002/humu.21305
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- Publication type:
- Article
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 918, doi. 10.1002/humu.21293
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- Publication type:
- Article