Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1).
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 303, doi. 10.1111/j.1399-0004.1998.tb02701.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 1998 AND VI 53 AND IP 4
Results: 21
1
2
Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 286, doi. 10.1111/j.1399-0004.1998.tb02698.x
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- Publication type:
- Article
3
Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
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- Clinical Genetics, 1998, v. 53, n. 4, p. 249, doi. 10.1111/j.1399-0004.1998.tb02691.x
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- Publication type:
- Article
4
Molecular and cytogenate analysis of an X/autosomal translocation: 45, X, dic(X;17)(p22.2;p13).
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- Clinical Genetics, 1998, v. 53, n. 4, p. 293, doi. 10.1111/j.1399-0004.1998.tb02699.x
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- Article
5
Now there are eight: CAG expansion underlies spinocerebellar ataxia type 7.
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- Clinical Genetics, 1998, v. 53, n. 4, p. 246, doi. 10.1111/j.1399-0004.1998.tb02690.x
- Publication type:
- Article
6
Photoanthropometric study of craniofacial traits in individuals with Prader-Willi syndrome on short-term growth hormone therapy.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 268, doi. 10.1111/j.1399-0004.1998.tb02694.x
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- Publication type:
- Article
7
A novel Mbo II polymorphism in exon 15 of the human adenomatous polyposis coli gene.
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- Clinical Genetics, 1998, v. 53, n. 4, p. 315, doi. 10.1111/j.1399-0004.1998.tb02704.x
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- Publication type:
- Article
8
A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs.
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- Clinical Genetics, 1998, v. 53, n. 4, p. 281, doi. 10.1111/j.1399-0004.1998.tb02697.x
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- Publication type:
- Article
9
Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency.
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- Clinical Genetics, 1998, v. 53, n. 4, p. 308, doi. 10.1111/j.1399-0004.1998.tb02702.x
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- Publication type:
- Article
10
Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo).
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- Clinical Genetics, 1998, v. 53, n. 4, p. 319, doi. 10.1111/j.1399-0004.1998.tb02706.x
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- Publication type:
- Article
11
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome.
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- Clinical Genetics, 1998, v. 53, n. 4, p. 278, doi. 10.1111/j.1399-0004.1998.tb02696.x
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- Publication type:
- Article
12
Pendred syndrome and the importance of being sulphated: Pendred syndrome is caused by a mutation in a putative sulphate transporter gene (PDS) Everett et al. (1997) Nat Genet 17: 411-421.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 245, doi. 10.1111/j.1399-0004.1998.tb02689.x
- Publication type:
- Article
13
Tetranucleotide repeat polymorphism at the CCSP gene.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 313, doi. 10.1111/j.1399-0004.1998.tb02703.x
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- Publication type:
- Article
14
A novel Ashkenazi predisposing mutation.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 243, doi. 10.1111/j.1399-0004.1998.tb02688.x
- Publication type:
- Article
15
Apolipoprotein E alleles in mothers of trisomy 18 conceptuses.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 321, doi. 10.1111/j.1399-0004.1998.tb02707.x
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16
G
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 262, doi. 10.1111/j.1399-0004.1998.tb02693.x
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- Publication type:
- Article
17
The fatal attraction of polyglutamine-containing proteins.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 233, doi. 10.1111/j.1399-0004.1998.tb02687.x
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- Publication type:
- Article
18
Discordant repeat size and phenotype in Kennedy syndrome.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 276, doi. 10.1111/j.1399-0004.1998.tb02695.x
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- Publication type:
- Article
19
Cerebral aqueductal stenosis as a presentation of deletion 6q25-qter.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 317, doi. 10.1111/j.1399-0004.1998.tb02705.x
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- Publication type:
- Article
20
Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 258, doi. 10.1111/j.1399-0004.1998.tb02692.x
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- Publication type:
- Article
21
Complex chromosomal rearrangements associated with congenital erythrophagocytotic histiocytosis.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 298, doi. 10.1111/j.1399-0004.1998.tb02700.x
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- Publication type:
- Article