Flow cytometry: an ‘old’ tool for novel applications in medical genetics.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 1, doi. 10.1034/j.1399-0004.2001.600101.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2001 AND VI 60 AND IP 1
Results: 17
1
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Maternal component in the familial aggregation of hypertension.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 13, doi. 10.1034/j.1399-0004.2001.600103.x
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- Publication type:
- Article
3
Familial resemblance for glucose and insulin metabolism indices derived from an intravenous glucose tolerance test in Blacks and Whites of the HERITAGE Family Study.
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- Clinical Genetics, 2001, v. 60, n. 1, p. 22, doi. 10.1034/j.1399-0004.2001.600104.x
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- Article
4
A super sensor for DNA integrity: bigger is better.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 9, doi. 10.1034/j.1399-0004.2001.600102.1.x
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- Publication type:
- Article
5
Sequestering CBP: the problem with expanded polyglutamine repeats.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 10, doi. 10.1034/j.1399-0004.2001.600102.2.x
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- Publication type:
- Article
6
When p63 goes awry: SAM domain mutations.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 11, doi. 10.1034/j.1399-0004.2001.600102.3.x
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- Publication type:
- Article
7
Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys.
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- Clinical Genetics, 2001, v. 60, n. 1, p. 31, doi. 10.1034/j.1399-0004.2001.600105.x
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- Publication type:
- Article
8
Identification of fifteen novel mutations and genotype–phenotype relationship in Fabry disease.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 46, doi. 10.1034/j.1399-0004.2001.600107.x
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- Publication type:
- Article
9
Haplotype analysis of the USH1D locus and genotype–phenotype correlations.
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- Clinical Genetics, 2001, v. 60, n. 1, p. 58, doi. 10.1034/j.1399-0004.2001.600109.x
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- Publication type:
- Article
10
Risk of obstetric cholestasis in sisters of index patients.
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- Clinical Genetics, 2001, v. 60, n. 1, p. 42, doi. 10.1034/j.1399-0004.2001.600106.x
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- Publication type:
- Article
11
Both alleles of the M235T polymorphism of the angiotensinogen gene can be a risk factor for myocardial infarction.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 52, doi. 10.1034/j.1399-0004.2001.600108.x
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- Publication type:
- Article
12
Co-occurrence and contribution of Fabry disease and Klippel–Trénaunay–Weber syndrome to a patient with atypical skin lesions.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 63, doi. 10.1034/j.1399-0004.2001.600110.x
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- Publication type:
- Article
13
Hemochromatosis mutations C282Y and H63D in ‘cis’ phase.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 68, doi. 10.1034/j.1399-0004.2001.600111.x
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- Publication type:
- Article
14
A non-sex chromosome marker in a patient with an atypical Ullrich–Turner phenotype and mosaicism of 46,X,mar/46,XX.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 73, doi. 10.1034/j.1399-0004.2001.600112.x
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- Publication type:
- Article
15
De novo inverted duplication of chromosome 7(q21.3→q35): cytogenetic diagnosis confirmed by FISH analysis.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 77, doi. 10.1034/j.1399-0004.2001.600113.x
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- Publication type:
- Article
16
Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 83, doi. 10.1034/j.1399-0004.2001.600114.x
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- Publication type:
- Article
17
Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 1, p. 86, doi. 10.1034/j.1399-0004.2001.600115.x
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- Publication type:
- Article