CORRIGENDUM.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 477, doi. 10.1038/jhg.2014.59
- Publication type:
- Article
Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 8
Results: 12
1
2
No association between Y chromosomal haplogroups and severe acne in the Han Chinese population.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 475, doi. 10.1038/jhg.2014.53
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- Publication type:
- Article
3
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 471, doi. 10.1038/jhg.2014.51
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- Publication type:
- Article
4
ZRS 406A>G mutation in patients with tibial hypoplasia, Polydactyly and triphalangeal first fingers.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 467, doi. 10.1038/jhg.2014.50
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- Publication type:
- Article
5
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 465, doi. 10.1038/jhg.2014.43
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- Publication type:
- Article
6
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 454, doi. 10.1038/jhg.2014.54
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- Publication type:
- Article
7
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of C0L8A2 mutations in Fuchs endothelial corneal dystrophy.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 444, doi. 10.1038/jhg.2014.55
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- Publication type:
- Article
8
Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 437, doi. 10.1038/jhg.2014.52
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- Publication type:
- Article
9
Genetic variations in RORα are associated with chronic obstructive pulmonary disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 430, doi. 10.1038/jhg.2014.48
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- Publication type:
- Article
10
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 423, doi. 10.1038/jhg.2014.36
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- Publication type:
- Article
11
A commentary on a novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 419, doi. 10.1038/jhg.2014.49
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- Publication type:
- Article
12
A commentary on comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 421, doi. 10.1038/jhg.2014.56
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- Publication type:
- Article