Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 12
Results: 18
Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 881, doi. 10.1038/sj.ejhg.5200730
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- Article
HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 961, doi. 10.1038/sj.ejhg.5200731
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- Article
Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 892, doi. 10.1038/sj.ejhg.5200734
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- Article
Mutation and linkage disequilibrium in human mtDNA.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 969, doi. 10.1038/sj.ejhg.5200735
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- Article
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 903, doi. 10.1038/sj.ejhg.5200736
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- Article
Annual Review of Genomics and Human Genetics.
- Published in:
- 2001
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- Book Review
Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 887, doi. 10.1038/sj.ejhg.5200740
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- Article
Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 910, doi. 10.1038/sj.ejhg.5200741
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- Article
The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 917, doi. 10.1038/sj.ejhg.5200742
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- Article
NEDD4L on human chromosome 18q21 has multiple forms of transcripts and is a homologue of the mouse Nedd4-2 gene.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 922, doi. 10.1038/sj.ejhg.5200747
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- Article
Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 931, doi. 10.1038/sj.ejhg.5200749
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- Article
Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 938, doi. 10.1038/sj.ejhg.5200752
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- Article
Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approach.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 953, doi. 10.1038/sj.ejhg.5200751
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- Article
Allergic rhinitis – a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 945, doi. 10.1038/sj.ejhg.5200753
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- Article
Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 965, doi. 10.1038/sj.ejhg.5200754
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- Publication type:
- Article
Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 957, doi. 10.1038/sj.ejhg.5200756
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- Article
Author index to volume 9.
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- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 974, doi. 10.1038/sj.ejhg.5200764
- Publication type:
- Article
Keyword index to volume 9.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 980, doi. 10.1038/sj.ejhg.5200765
- Publication type:
- Article