Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 2
Results: 15
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 156, doi. 10.1038/jhg.2010.155
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- Article
A Commentary on Genetic affinity and admixture of northern Thai People along their migration route in Northern Thailand: evidence from autosomal STR loci.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 99, doi. 10.1038/jhg.2010.138
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- Article
Going BAC or oligo microarray to the well: A commentary on Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 104, doi. 10.1038/jhg.2010.168
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- Article
X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 106, doi. 10.1038/jhg.2010.139
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- Article
Haplotype block structure of the genomic region of the mu opioid receptor gene.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 147, doi. 10.1038/jhg.2010.150
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- Article
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 110, doi. 10.1038/jhg.2010.129
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- Article
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 138, doi. 10.1038/jhg.2010.146
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- Article
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 143, doi. 10.1038/jhg.2010.148
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- Article
Genetic affinity and admixture of northern Thai people along their migration route in northern Thailand: evidence from autosomal STR loci.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 130, doi. 10.1038/jhg.2010.135
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- Publication type:
- Article
A Commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for 'treatable' genetic diseases.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 101, doi. 10.1038/jhg.2010.149
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Familial Mediterranean fever with a single MEFV mutation: can a deletion resulting in α-thalassemia be the cause?
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 169, doi. 10.1038/jhg.2010.160
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Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 166, doi. 10.1038/jhg.2010.161
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A Commentary on Axon guidance pathway genes and Parkinson's disease.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 102, doi. 10.1038/jhg.2010.153
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- Article
SNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean population.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 125, doi. 10.1038/jhg.2010.130
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- Article
CASP3 gene single-nucleotide polymorphism (rs72689236) and Kawasaki disease in Taiwanese children.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 161, doi. 10.1038/jhg.2010.154
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- Article