Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 9
Results: 12
A new human genetic resource: a DNA bank established as part of the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC).
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 653, doi. 10.1038/sj.ejhg.5200502
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- Article
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 661, doi. 10.1038/sj.ejhg.5200512
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- Article
APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 713, doi. 10.1038/sj.ejhg.5200513
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- Article
Mitochondrial DNA sequences in prehistoric human remains from the Alps.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 669, doi. 10.1038/sj.ejhg.5200514
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Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 678, doi. 10.1038/sj.ejhg.5200515
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- Article
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 683, doi. 10.1038/sj.ejhg.5200518
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- Article
Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 709, doi. 10.1038/sj.ejhg.5200520
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A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 721, doi. 10.1038/sj.ejhg.5200521
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Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 725, doi. 10.1038/sj.ejhg.5200522
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A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 697, doi. 10.1038/sj.ejhg.5200523
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Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 717, doi. 10.1038/sj.ejhg.5200524
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- Article
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 704
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- Article