Works matching IS 03406717 AND DT 2013 AND VI 132 AND IP 11
Results: 12
Detecting genomic clustering of risk variants from sequence data: cases versus controls.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1301, doi. 10.1007/s00439-013-1335-y
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- Publication type:
- Article
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
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- Human Genetics, 2013, v. 132, n. 11, p. 1311, doi. 10.1007/s00439-013-1337-9
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- Article
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1235, doi. 10.1007/s00439-013-1325-0
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- Article
Parkinson disease loci in the mid-western Amish.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1213, doi. 10.1007/s00439-013-1316-1
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- Publication type:
- Article
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1245, doi. 10.1007/s00439-013-1323-2
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- Article
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1253, doi. 10.1007/s00439-013-1330-3
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- Article
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1265, doi. 10.1007/s00439-013-1326-z
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- Publication type:
- Article
Common genetic variants associated with lipid profiles in a Chinese pediatric population.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1275, doi. 10.1007/s00439-013-1332-1
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- Publication type:
- Article
Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
- Published in:
- 2013
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- Publication type:
- Correction Notice
A novel rearrangement of occludin causes brain calcification and renal dysfunction.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1223, doi. 10.1007/s00439-013-1327-y
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- Publication type:
- Article
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1287, doi. 10.1007/s00439-013-1333-0
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- Publication type:
- Article
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1197, doi. 10.1007/s00439-013-1344-x
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- Publication type:
- Article