Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 281, doi. 10.1111/j.1399-0004.1994.tb04030.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1994 AND VI 45 AND IP 6
Results: 16
1
2
A new case of 'complete' trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23).
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 305, doi. 10.1111/j.1399-0004.1994.tb04036.x
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- Publication type:
- Article
3
The apolipoprotein C-II variant apoC-II.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 292, doi. 10.1111/j.1399-0004.1994.tb04033.x
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- Publication type:
- Article
4
Patient and parental attitudes toward genetic screening and its implications at an adult cystic fibrosis centre.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 308, doi. 10.1111/j.1399-0004.1994.tb04037.x
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- Publication type:
- Article
5
Plasminogen with type-I mutation in the Chinese Han population.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 285, doi. 10.1111/j.1399-0004.1994.tb04031.x
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- Publication type:
- Article
6
Announcements.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 332, doi. 10.1111/j.1399-0004.1994.tb04044.x
- Publication type:
- Article
7
X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 314, doi. 10.1111/j.1399-0004.1994.tb04039.x
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- Publication type:
- Article
8
Central nervous system abnormalities in chromosome deletion at 11q23.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 325, doi. 10.1111/j.1399-0004.1994.tb04042.x
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- Publication type:
- Article
9
Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 318, doi. 10.1111/j.1399-0004.1994.tb04040.x
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- Publication type:
- Article
10
Discordance between direct and PHA-stimulated chromosome preparations from neonates.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 277, doi. 10.1111/j.1399-0004.1994.tb04029.x
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- Publication type:
- Article
11
Inbreeding and congenital heart diseases in a North Indian population.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 288, doi. 10.1111/j.1399-0004.1994.tb04032.x
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- Publication type:
- Article
12
A PCR-based test for a polymorphism within the human NF1 gene.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 313, doi. 10.1111/j.1399-0004.1994.tb04038.x
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- Publication type:
- Article
13
Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 298, doi. 10.1111/j.1399-0004.1994.tb04034.x
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- Publication type:
- Article
14
De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 301, doi. 10.1111/j.1399-0004.1994.tb04035.x
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- Publication type:
- Article
15
The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 330, doi. 10.1111/j.1399-0004.1994.tb04043.x
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- Publication type:
- Article
16
Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 6, p. 323, doi. 10.1111/j.1399-0004.1994.tb04041.x
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- Publication type:
- Article