Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 313, doi. 10.1111/j.1399-0004.1995.tb04116.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1995 AND VI 48 AND IP 6
Results: 14
1
2
Announcements.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 334, doi. 10.1111/j.1399-0004.1995.tb04122.x
- Publication type:
- Article
3
Cockayne syndrome type III with high intelligence.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 331, doi. 10.1111/j.1399-0004.1995.tb04121.x
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- Publication type:
- Article
4
De novo balanced 5;21 translocation in a child with acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 321, doi. 10.1111/j.1399-0004.1995.tb04118.x
- By:
- Publication type:
- Article
5
Association between a dimorphic site on chromosome 12 and clinical diagnosis of hypertension in three independent populations.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 284, doi. 10.1111/j.1399-0004.1995.tb04110.x
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- Publication type:
- Article
6
Increased frequency of apolipoprotein ε2 allele in non-insulin dependent diabetic (NIDDM) patients with nephropathy.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 288, doi. 10.1111/j.1399-0004.1995.tb04111.x
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- Publication type:
- Article
7
Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 299, doi. 10.1111/j.1399-0004.1995.tb04113.x
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- Publication type:
- Article
8
Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 324, doi. 10.1111/j.1399-0004.1995.tb04119.x
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- Publication type:
- Article
9
Familial transmission of a duplication-deficiency X chromosome associated with partial Turner syndrome.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 317, doi. 10.1111/j.1399-0004.1995.tb04117.x
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- Publication type:
- Article
10
Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 328, doi. 10.1111/j.1399-0004.1995.tb04120.x
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- Publication type:
- Article
11
Common genetic variants of lipoprotein lipase that relate to lipid transport in patients with premature coronary artery disease.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 293, doi. 10.1111/j.1399-0004.1995.tb04112.x
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- Publication type:
- Article
12
Mohr syndrome (oro-facial-digital syndrome II) - a familial case with different phenotypic findings.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 304, doi. 10.1111/j.1399-0004.1995.tb04114.x
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- Publication type:
- Article
13
Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 281, doi. 10.1111/j.1399-0004.1995.tb04109.x
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- Publication type:
- Article
14
Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 308, doi. 10.1111/j.1399-0004.1995.tb04115.x
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- Publication type:
- Article