Detection of dystrophin deletion carriers using FISH analysis.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 17, doi. 10.1111/j.1399-0004.1997.tb02509.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 1997 AND VI 52 AND IP 1
Results: 15
1
2
A polymorphism in intron 6 of the CYP17 gene.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 68, doi. 10.1111/j.1399-0004.1997.tb02519.x
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- Publication type:
- Article
3
A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 56, doi. 10.1111/j.1399-0004.1997.tb02515.x
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- Publication type:
- Article
4
A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 30, doi. 10.1111/j.1399-0004.1997.tb02511.x
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- Publication type:
- Article
5
Scintigraphic evaluation of Tc-99m-low-density lipoprotein (LDL) distribution in patients with Gaucher disease.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 7, doi. 10.1111/j.1399-0004.1997.tb02507.x
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- Publication type:
- Article
6
Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 51, doi. 10.1111/j.1399-0004.1997.tb02514.x
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- Publication type:
- Article
7
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 12, doi. 10.1111/j.1399-0004.1997.tb02508.x
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- Publication type:
- Article
8
Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 1, doi. 10.1111/j.1399-0004.1997.tb02506.x
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- Publication type:
- Article
9
Ethics and Genetics: Advanced European Bioethics Course. Nijmegen (The Netherlands), November 20-22, 1997.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 70, doi. 10.1111/j.1399-0004.1997.tb02520.x
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- Publication type:
- Article
10
Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 23, doi. 10.1111/j.1399-0004.1997.tb02510.x
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- Publication type:
- Article
11
Essential hyperhidrosis in Turner syndrome.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 63, doi. 10.1111/j.1399-0004.1997.tb02517.x
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- Publication type:
- Article
12
A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 65, doi. 10.1111/j.1399-0004.1997.tb02518.x
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- Publication type:
- Article
13
Benign familial microcytic thrombocytosis with autosomal dominant transmission.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 47, doi. 10.1111/j.1399-0004.1997.tb02513.x
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- Publication type:
- Article
14
Cardio-facio-cutaneous (CFC) syndrome - a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 37, doi. 10.1111/j.1399-0004.1997.tb02512.x
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- Publication type:
- Article
15
Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 61, doi. 10.1111/j.1399-0004.1997.tb02516.x
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- Publication type:
- Article