Dwarfs in art.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 84, doi. 10.1034/j.1399-0004.2001.590204.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2001 AND VI 59 AND IP 2
Results: 17
1
2
Fetal cells in maternal blood.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 74, doi. 10.1034/j.1399-0004.2001.590202.x
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- Publication type:
- Article
3
The expanding world of spinocerebellar ataxia: pentanucleotide repeats expand in SCA10.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 80, doi. 10.1034/j.1399-0004.2001.590203.x
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- Publication type:
- Article
4
A molecular link between two disorders.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 81, doi. 10.1034/j.1399-0004.2001.590203.1.x
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- Publication type:
- Article
5
A case for CREB-dependent transcription activation in neurodegenerative disorders.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 82, doi. 10.1034/j.1399-0004.2001.590203.2.x
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- Publication type:
- Article
6
Advances in the detection of chromosomal aberrations using spectral karyotyping.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 65, doi. 10.1034/j.1399-0004.2001.590201.x
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- Publication type:
- Article
7
Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 88, doi. 10.1034/j.1399-0004.2001.590205.x
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- Publication type:
- Article
8
Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 99, doi. 10.1034/j.1399-0004.2001.590206.x
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- Publication type:
- Article
9
Four half-siblings with infantile myrofibromatosis: a case for autosomal-recessive inheritance.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 134, doi. 10.1034/j.1399-0004.2001.590213.x
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- Publication type:
- Article
10
Identification of two de novo partial trisomies by comparative genomic hybridization.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 106, doi. 10.1034/j.1399-0004.2001.590207.x
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- Publication type:
- Article
11
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 115, doi. 10.1034/j.1399-0004.2001.590209.x
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- Publication type:
- Article
12
The ‘flap’ endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 122, doi. 10.1034/j.1399-0004.2001.590210.x
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- Publication type:
- Article
13
Recombinant Down syndrome: a case report and literature review.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 128, doi. 10.1034/j.1399-0004.2001.590211.x
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- Publication type:
- Article
14
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 131, doi. 10.1034/j.1399-0004.2001.590212.x
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- Publication type:
- Article
15
Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 111, doi. 10.1034/j.1399-0004.2001.590208.x
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- Publication type:
- Article
16
Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 136, doi. 10.1034/j.1399-0004.2001.590214.x
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- Publication type:
- Article
17
Three-way unbalanced translocation in a mildly dysmorphic mentally retarded child.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 139, doi. 10.1034/j.1399-0004.2001.590215.x
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- Publication type:
- Article