Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 841, doi. 10.1007/s10038-006-0002-8
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- Publication type:
- Article
Works matching IS 14345161 AND DT 2006 AND VI 51 AND IP 10
Results: 11
1
2
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 846, doi. 10.1007/s10038-006-0031-3
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- Article
3
The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population.
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- Journal of Human Genetics, 2006, v. 51, n. 10, p. 857, doi. 10.1007/s10038-006-0034-0
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- Publication type:
- Article
4
A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 872, doi. 10.1007/s10038-006-0037-x
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- Publication type:
- Article
5
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 887, doi. 10.1007/s10038-006-0039-8
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- Publication type:
- Article
6
Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 905, doi. 10.1007/s10038-006-0033-1
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- Publication type:
- Article
7
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 864, doi. 10.1007/s10038-006-0035-z
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- Publication type:
- Article
8
Similarity of the allele frequency and linkage disequilibrium pattern of single nucleotide polymorphisms in drug-related gene loci between Thai and northern East Asian populations: implications for tagging SNP selection in Thais.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 896, doi. 10.1007/s10038-006-0041-1
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- Publication type:
- Article
9
Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 851, doi. 10.1007/s10038-006-0032-2
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- Publication type:
- Article
10
New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 909, doi. 10.1007/s10038-006-0036-y
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- Publication type:
- Article
11
Glutathione S-transferase M1 and GST T1 genetic polymorphisms and Raynaud’s phenomenon in French vinyl chloride monomer-exposed workers.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 879, doi. 10.1007/s10038-006-0038-9
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- Publication type:
- Article