Methylation profiles of DXPas34 during the onset of X-inactivation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 31, doi. 10.1093/hmg/10.1.31
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 1
Results: 11
1
2
A germline deletion of p14[sup ARF] but not CDKN2A in a melanoma-neural system tumour syndrome family.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 55, doi. 10.1093/hmg/10.1.55
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- Publication type:
- Article
3
Autosomal dominant transmission of GLUT1 deficiency.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 63, doi. 10.1093/hmg/10.1.63
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- Publication type:
- Article
4
X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 77, doi. 10.1093/hmg/10.1.77
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- Publication type:
- Article
5
The kyphoscoliosis (ky ) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 9, doi. 10.1093/hmg/10.1.9
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- Publication type:
- Article
6
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 69, doi. 10.1093/hmg/10.1.69
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- Publication type:
- Article
7
The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 1, doi. 10.1093/hmg/10.1.1
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- Publication type:
- Article
8
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 39, doi. 10.1093/hmg/10.1.39
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- Publication type:
- Article
9
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 47, doi. 10.1093/hmg/10.1.47
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- Publication type:
- Article
10
Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 17, doi. 10.1093/hmg/10.1.17
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- Publication type:
- Article
11
The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 1, p. 25, doi. 10.1093/hmg/10.1.25
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- Publication type:
- Article