Internet resources for the clinical geneticist.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 179, doi. 10.1034/j.1399-0004.1999.560301.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 1999 AND VI 56 AND IP 3
Results: 15
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Noncoding germline mutations in p16/CDKN2A in melanoma-prone families.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 188, doi. 10.1034/j.1399-0004.1999.560302.1.x
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- Article
3
Genetic and environmental sources of QT interval variability in Israeli families: the kibbutz settlements family study.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 200, doi. 10.1034/j.1399-0004.1999.560304.x
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- Publication type:
- Article
4
Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 192, doi. 10.1034/j.1399-0004.1999.560303.x
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- Article
5
PIK3CA: determining its role in cellular proliferation and ovarian cancer.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 190, doi. 10.1034/j.1399-0004.1999.560302.2.x
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- Article
6
Timing is everything: especially with loss of tumor suppressor genes.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 186, doi. 10.1034/j.1399-0004.1999.560302.x
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- Publication type:
- Article
7
Detection of a novel germline mutation in the von Hippel–Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BESS).
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 210, doi. 10.1034/j.1399-0004.1999.560305.x
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- Publication type:
- Article
8
Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 216, doi. 10.1034/j.1399-0004.1999.560306.x
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- Publication type:
- Article
9
Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 225, doi. 10.1034/j.1399-0004.1999.560308.x
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- Article
10
The vitamin D receptor FokI start codon polymorphism and bone mineral density in osteoporotic postmenopausal French women.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 221, doi. 10.1034/j.1399-0004.1999.560307.x
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- Publication type:
- Article
11
Definition of the smallest pathological CAG expansion in SCA7.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 232, doi. 10.1034/j.1399-0004.1999.560309.x
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- Publication type:
- Article
12
Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 235, doi. 10.1034/j.1399-0004.1999.560310.x
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- Publication type:
- Article
13
Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 238, doi. 10.1034/j.1399-0004.1999.560311.x
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- Publication type:
- Article
14
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 242, doi. 10.1034/j.1399-0004.1999.560312.x
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- Publication type:
- Article
15
Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 244, doi. 10.1034/j.1399-0004.1999.560313.x
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- Publication type:
- Article