Works matching IS 14345161 AND DT 2005 AND VI 50 AND IP 7
Results: 9
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α- N-acetylglucosaminidase gene from the Okinawa islands in Japan.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 7, p. 357, doi. 10.1007/s10038-005-0258-4
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- Article
Single nucleotide variants in the β<sub>2</sub>-adrenergic and β<sub>3</sub>-adrenergic receptor genes explained 18.3% of adolescent obesity variation.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 365, doi. 10.1007/s10038-005-0260-x
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- Article
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 347, doi. 10.1007/s10038-005-0263-7
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- Article
Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 360, doi. 10.1007/s10038-005-0259-3
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- Article
The Alu insertion in the CLCN5 gene of a patient with Dent’s disease leads to exon 11 skipping.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 370, doi. 10.1007/s10038-005-0265-5
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- Article
Genetic diversity and new therapeutic concepts.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 7, p. 321, doi. 10.1007/s10038-005-0264-6
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- Article
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 338, doi. 10.1007/s10038-005-0262-8
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- Article
The effect of genotyping error in sib-pair genomewide linkage scans depends crucially upon the method of analysis.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 329, doi. 10.1007/s10038-005-0269-1
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- Article
R352Q mutation of the DHCR7 gene is common among Japanese Smith–Lemli–Opitz syndrome patients.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 353, doi. 10.1007/s10038-005-0267-3
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- Article