Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 11
Results: 12
Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11–q13.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 895, doi. 10.1038/sj.ejhg.5200533
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Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 837
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PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 820, doi. 10.1038/sj.ejhg.5200539
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Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 846
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CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 827, doi. 10.1038/sj.ejhg.5200543
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Familial Robertsonian translocation 15;21 and rare paracentric inv(21): unexpected re-inversion in a child with translocation trisomy 21.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 815, doi. 10.1038/sj.ejhg.5200544
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Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 875, doi. 10.1038/sj.ejhg.5200549
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Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 853, doi. 10.1038/sj.ejhg.5200551
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Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 861, doi. 10.1038/sj.ejhg.5200552
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Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 869, doi. 10.1038/sj.ejhg.5200553
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Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 900, doi. 10.1038/sj.ejhg.5200554
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- Article
Simple two-color array-based approach for mutation detection.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 884, doi. 10.1038/sj.ejhg.5200558
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- Article