Tuberous sclerosis in two sibs of normal parents.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 306, doi. 10.1111/j.1399-0004.1991.tb03031.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1991 AND VI 39 AND IP 4
Results: 17
1
2
Prader-Willi syndrome and Robertsonian translocations involving chromosome 15.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 294, doi. 10.1111/j.1399-0004.1991.tb03028.x
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- Publication type:
- Article
3
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 287, doi. 10.1111/j.1399-0004.1991.tb03027.x
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- Publication type:
- Article
4
Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 298, doi. 10.1111/j.1399-0004.1991.tb03029.x
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- Publication type:
- Article
5
Within-individual variation in serum cholesterol levels: association with DNA polymorphisms at the apolipoprotein B and AI-CIII-AIV loci in patients with peripheral arterial disease.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 260, doi. 10.1111/j.1399-0004.1991.tb03024.x
- By:
- Publication type:
- Article
6
Chediak-Higashi syndrome: report of a case with an ovarian tumor.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 316, doi. 10.1111/j.1399-0004.1991.tb03036.x
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- Publication type:
- Article
7
Familial Jarcho-Levin syndrome.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 253, doi. 10.1111/j.1399-0004.1991.tb03023.x
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- Publication type:
- Article
8
Transcobalamins in the etiology of neural tube defects.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 309, doi. 10.1111/j.1399-0004.1991.tb03032.x
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- Publication type:
- Article
9
Addendum: A new syndrome of aphalangy, hemivertebrae and urogenital-intestinal dysgenesis.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 311, doi. 10.1111/j.1399-0004.1991.tb03033.x
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- Publication type:
- Article
10
The ΔF508 mutation in mild adult forms of cystic fibrosis (CF).
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 304, doi. 10.1111/j.1399-0004.1991.tb03030.x
- By:
- Publication type:
- Article
11
Holt-Oram syndrome in four half-siblings with unaffected parents: brief clinical report.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 241, doi. 10.1111/j.1399-0004.1991.tb03021.x
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- Publication type:
- Article
12
A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome).
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 274, doi. 10.1111/j.1399-0004.1991.tb03025.x
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- Publication type:
- Article
13
Announcements.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 319, doi. 10.1111/j.1399-0004.1991.tb03037.x
- Publication type:
- Article
14
The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD).
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 245, doi. 10.1111/j.1399-0004.1991.tb03022.x
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- Publication type:
- Article
15
Multiplex PCR excludes Duchenne muscular dystrophy in a twin pregnancy.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 314, doi. 10.1111/j.1399-0004.1991.tb03035.x
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- Publication type:
- Article
16
High resolution-banded chromosomes from patients with Sotos syndrome.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 313, doi. 10.1111/j.1399-0004.1991.tb03034.x
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- Publication type:
- Article
17
Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 278, doi. 10.1111/j.1399-0004.1991.tb03026.x
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- Publication type:
- Article