Structure–function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum’s disease.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1971, doi. 10.1093/hmg/10.18.1971
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 18
Results: 15
1
2
Genetic model of multi-step breast carcinogenesis involving the epithelium and stroma: clues to tumour–microenvironment interactions.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1907, doi. 10.1093/hmg/10.18.1907
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- Publication type:
- Article
3
High resolution linkage and association mapping identifies a novel rheumatoid arthritis susceptibility locus homologous to one linked to two rat models of inflammatory arthritis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1901, doi. 10.1093/hmg/10.18.1901
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- Publication type:
- Article
4
Identification of a Y chromosome haplogroup associated with reduced sperm counts.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1873, doi. 10.1093/hmg/10.18.1873
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- Publication type:
- Article
5
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human–yeast MLH1 proteins in Saccharomyces cerevisiae.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1889, doi. 10.1093/hmg/10.18.1889
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- Publication type:
- Article
6
Telomere maintenance by telomerase and by recombination can coexist in human cells.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1945, doi. 10.1093/hmg/10.18.1945
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- Publication type:
- Article
7
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain ), a murine model of Down’s syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1915, doi. 10.1093/hmg/10.18.1915
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- Publication type:
- Article
8
The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1879, doi. 10.1093/hmg/10.18.1879
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- Publication type:
- Article
9
Loss of Uch-L1 and Uch-L3 leads to neurodegeneration, posterior paralysis and dysphagia.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1963, doi. 10.1093/hmg/10.18.1963
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- Publication type:
- Article
10
Characterization of the TBX5 binding site and analysis of mutations that cause Holt–Oram syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1983, doi. 10.1093/hmg/10.18.1983
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- Publication type:
- Article
11
Large-scale identification of mammalian proteins localized to nuclear sub-compartments.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1995, doi. 10.1093/hmg/10.18.1995
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- Publication type:
- Article
12
Effects of reconstitution of telomerase activity on telomere maintenance by the alternative lengthening of telomeres (ALT) pathway.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1953, doi. 10.1093/hmg/10.18.1953
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- Publication type:
- Article
13
Protective effects of cardiotrophin-1 adenoviral gene transfer on neuromuscular degeneration in transgenic ALS mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1925, doi. 10.1093/hmg/10.18.1925
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- Publication type:
- Article
14
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1867, doi. 10.1093/hmg/10.18.1867
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- Publication type:
- Article
15
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 18, p. 1935, doi. 10.1093/hmg/10.18.1935
- By:
- Publication type:
- Article