Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 137, doi. 10.1038/sj.ejhg.5200401
- By:
- Publication type:
- Article
Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 2
Results: 14
1
2
SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 79, doi. 10.1038/sj.ejhg.5200404
- By:
- Publication type:
- Article
3
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 141, doi. 10.1038/sj.ejhg.5200407
- By:
- Publication type:
- Article
4
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1–Xp21.3 mental retardation.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 87, doi. 10.1038/sj.ejhg.5200415
- By:
- Publication type:
- Article
5
Age of diagnosis-based linkage analysis in type 1 diabetes.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 145, doi. 10.1038/sj.ejhg.5200420
- By:
- Publication type:
- Article
6
Gaucher disease: expression and characterization of mild and severe acid β-glucosidase mutations in Portuguese type 1 patients.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 95, doi. 10.1038/sj.ejhg.5200422
- By:
- Publication type:
- Article
7
Discovery, scoring and utilization of human single nucleotide polymorphisms: a multidisciplinary problem.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 154, doi. 10.1038/sj.ejhg.5200424
- By:
- Publication type:
- Article
8
A novel expression based approach for assessing the inactivation status of human X-linked genes.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 103, doi. 10.1038/sj.ejhg.5200427
- By:
- Publication type:
- Article
9
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 149, doi. 10.1038/sj.ejhg.5200428
- By:
- Publication type:
- Article
10
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 109, doi. 10.1038/sj.ejhg.5200429
- By:
- Publication type:
- Article
11
A robust test for assortative mating.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 119
- By:
- Publication type:
- Article
12
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 125, doi. 10.1038/sj.ejhg.5200432
- By:
- Publication type:
- Article
13
Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 130, doi. 10.1038/sj.ejhg.5200438
- By:
- Publication type:
- Article
14
FAP and Marfanoid habitus.
- Published in:
- 2000
- By:
- Publication type:
- Letter