Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 228, doi. 10.1034/j.1399-0004.2003.00002.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2003 AND VI 63 AND IP 3
Results: 17
1
2
The R608del mutation in the acid sphingomyelinase gene (SMPD1 ) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 235, doi. 10.1034/j.1399-0004.2003.00025.x
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- Publication type:
- Article
3
The allelic loss of chromosome 3p25 with c -myc gain is related to the development of clear-cell renal cell carcinoma.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 184, doi. 10.1034/j.1399-0004.2003.00035.x
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- Publication type:
- Article
4
The natural history of sclerosteosis.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 192, doi. 10.1034/j.1399-0004.2003.00036.x
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- Publication type:
- Article
5
De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 239, doi. 10.1034/j.1399-0004.2003.00037.x
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- Publication type:
- Article
6
Genetic counseling for prostate cancer risk.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 169, doi. 10.1034/j.1399-0004.2003.00038.x
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- Publication type:
- Article
7
Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 198, doi. 10.1034/j.1399-0004.2003.00039.x
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- Publication type:
- Article
8
Identification of a deletion in the mismatch repair gene, MSH2, using mouse–human cell hybrids monosomal for chromosome 2.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 215, doi. 10.1034/j.1399-0004.2003.00040.x
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- Publication type:
- Article
9
Effects of a promoter variation in the hepatic glucokinase gene on promoter activity and glucose tolerance in Southern Chinese subjects.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 232, doi. 10.1034/j.1399-0004.2003.00041.x
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- Publication type:
- Article
10
Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 210, doi. 10.1034/j.1399-0004.2003.00043.x
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- Publication type:
- Article
11
Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 219, doi. 10.1034/j.1399-0004.2003.00044.x
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- Publication type:
- Article
12
Ehlers–Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 224, doi. 10.1034/j.1399-0004.2003.00047.x
- By:
- Publication type:
- Article
13
Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 205, doi. 10.1034/j.1399-0004.2003.00050.x
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- Publication type:
- Article
14
Glucocerebrosidase mutation T369M appears to be another polymorphism.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 237, doi. 10.1034/j.1399-0004.2003.00055.x
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- Publication type:
- Article
15
Defective regulation of extracellular ion homeostasis causes peripheral neuropathy associated with agenesis of the corpus callosum.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 179, doi. 10.1034/j.1399-0004.2003.t01-1-00061.x
- By:
- Publication type:
- Article
16
Violence begets violence; or does it? A brain enzyme protects victims of childhood abuse from becoming antisocial and criminal.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 180, doi. 10.1034/j.1399-0004.2003.t01-2-00061.x
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- Publication type:
- Article
17
A spectrum of neurological phenotypes caused by mutations in the X-linked aristaless-related homeobox gene, ARX.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 177, doi. 10.1034/j.1399-0004.2003.00061.x
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- Publication type:
- Article