Found: 25
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Location, Location, Cis-mutation.
- Published in:
- Human Mutation, 2011, v. 32, n. 12, p. iv, doi. 10.1002/humu.21638
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A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, 'dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome'. Which name is appropriate, 'Adducted Thumb-Clubfoot Syndrome' or 'Ehlers-Danlos syndrome'?
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- Human Mutation, 2011, v. 32, n. 12, p. 1507, doi. 10.1002/humu.21586
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Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays.
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- Human Mutation, 2011, v. 32, n. 12, p. 1500, doi. 10.1002/humu.21581
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A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a chinese family.
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- Human Mutation, 2011, v. 32, n. 12, p. 1367, doi. 10.1002/humu.21552
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Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies.
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- Human Mutation, 2011, v. 32, n. 12, p. 1407, doi. 10.1002/humu.21577
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Estimating the degree of identity by descent in consanguineous couples.
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- Human Mutation, 2011, v. 32, n. 12, p. 1350, doi. 10.1002/humu.21584
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dbHCCvar: A comprehensive database of human genetic variations in hepatocellular carcinoma.
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- Human Mutation, 2011, v. 32, n. 12, p. E2308, doi. 10.1002/humu.21595
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Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.
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- Human Mutation, 2011, v. 32, n. 12, p. 1335, doi. 10.1002/humu.21588
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SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.
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- Human Mutation, 2011, v. 32, n. 12, p. 1376, doi. 10.1002/humu.21606
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First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype.
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- Human Mutation, 2011, v. 32, n. 12, p. 1417, doi. 10.1002/humu.21590
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Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome.
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- Human Mutation, 2011, v. 32, n. 12, p. 1436, doi. 10.1002/humu.21583
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Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
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- Human Mutation, 2011, v. 32, n. 12, p. 1385, doi. 10.1002/humu.21605
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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis.
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- Human Mutation, 2011, v. 32, n. 12, p. 1450, doi. 10.1002/humu.21587
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- Article
SgD-CNV, a database for common and rare copy number variants in three Asian populations.
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- Human Mutation, 2011, v. 32, n. 12, p. 1341, doi. 10.1002/humu.21601
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Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death.
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- Human Mutation, 2011, v. 32, n. 12, p. 1390, doi. 10.1002/humu.21582
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BAG3 in heart disease: Novel clues for cardiomyocyte survival from the Z-disk?
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- Human Mutation, 2011, v. 32, n. 12, p. iv, doi. 10.1002/humu.21637
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Assessment of human nter and cter BRCA1 mutations using growth and localization assays in yeast.
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- Human Mutation, 2011, v. 32, n. 12, p. 1470, doi. 10.1002/humu.21608
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DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.
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- Human Mutation, 2011, v. 32, n. 12, p. 1359, doi. 10.1002/humu.21597
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Extending the phenotypes associated with DICER1 mutations.
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- Human Mutation, 2011, v. 32, n. 12, p. 1381, doi. 10.1002/humu.21600
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Enhancer-adoption as a mechanism of human developmental disease.
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- Human Mutation, 2011, v. 32, n. 12, p. 1492, doi. 10.1002/humu.21615
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Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
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- Human Mutation, 2011, v. 32, n. 12, p. 1371, doi. 10.1002/humu.21589
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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
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- Human Mutation, 2011, v. 32, n. 12, p. 1398, doi. 10.1002/humu.21580
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Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase.
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- Human Mutation, 2011, v. 32, n. 12, p. 1460, doi. 10.1002/humu.21591
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High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.
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- Human Mutation, 2011, v. 32, n. 12, p. 1427, doi. 10.1002/humu.21585
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Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.
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- Human Mutation, 2011, v. 32, n. 12, p. 1481, doi. 10.1002/humu.21603
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