Works matching IS 00099163 AND DT 2000 AND VI 58 AND IP 6
Results: 12
Ventricular septal defect associated with microdeletions of chromosome 22q11.2.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 493, doi. 10.1034/j.1399-0004.2000.580612.x
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- Article
Ectodermal dysplasias: not only ‘skin’ deep.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 415, doi. 10.1034/j.1399-0004.2000.580601.x
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- Article
Factors influencing sib risks for Multiple Sclerosis.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 431, doi. 10.1034/j.1399-0004.2000.580602.x
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- Article
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 436, doi. 10.1034/j.1399-0004.2000.580603.x
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- Article
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 447, doi. 10.1034/j.1399-0004.2000.580604.x
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- Article
Influence of 699C→T and 1080C→T polymorphisms of the cystathionine β-synthase gene on plasma homocysteine levels.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 455, doi. 10.1034/j.1399-0004.2000.580605.x
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- Article
Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 460, doi. 10.1034/j.1399-0004.2000.580606.x
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- Article
Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 469, doi. 10.1034/j.1399-0004.2000.580607.x
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- Article
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 473, doi. 10.1034/j.1399-0004.2000.580608.x
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- Article
Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 479, doi. 10.1034/j.1399-0004.2000.580609.x
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- Article
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 483, doi. 10.1034/j.1399-0004.2000.580610.x
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- Article
Segregation of a supernumerary del(15) marker chromosome in sperm.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 488, doi. 10.1034/j.1399-0004.2000.580611.x
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- Article