Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 12
Results: 17
Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 903, doi. 10.1038/sj.ejhg.5200545
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- Publication type:
- Article
Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 923, doi. 10.1038/sj.ejhg.5200555
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- Publication type:
- Article
Allelic association is increased by correlation of effective family size.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 980, doi. 10.1038/sj.ejhg.5200556
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- Publication type:
- Article
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 918, doi. 10.1038/sj.ejhg.5200557
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- Publication type:
- Article
mtDNA hypervariable region II (HVII) sequences in human evolution studies.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 964, doi. 10.1038/sj.ejhg.5200563
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- Publication type:
- Article
Elastin: mutational spectrum in supravalvular aortic stenosis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 955, doi. 10.1038/sj.ejhg.5200564
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- Publication type:
- Article
Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 939, doi. 10.1038/sj.ejhg.5200565
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- Publication type:
- Article
Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 933, doi. 10.1038/sj.ejhg.5200566
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- Publication type:
- Article
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23–q31.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 991, doi. 10.1038/sj.ejhg.5200567
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- Article
Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3′A, CCR2-64I, and CCR5-Δ32) in global populations.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 975, doi. 10.1038/sj.ejhg.5200568
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- Article
Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 994, doi. 10.1038/sj.ejhg.5200570
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- Publication type:
- Article
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 946, doi. 10.1038/sj.ejhg.5200571
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- Publication type:
- Article
Parental origin and mechanisms of formation of triploidy: a study of 25 cases.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 911, doi. 10.1038/sj.ejhg.5200572
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- Publication type:
- Article
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 986, doi. 10.1038/sj.ejhg.5200586
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- Publication type:
- Article
EUROGAPPP PROJECT 1999 - 2000 Public and Professional Policy Committee (PPPC)* Population genetic screening programmes: Proposed recommendations of the European Society of Human Genetics.
- Published in:
- 2000
- Publication type:
- Erratum
Author Index.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 1001, doi. 10.1038/sj.ejhg.5200588
- Publication type:
- Article
Keyword index.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 1006, doi. 10.1038/sj.ejhg.5200589
- Publication type:
- Article