Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 2
Results: 18
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 163, doi. 10.1093/hmg/10.2.163
- By:
- Publication type:
- Article
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 99, doi. 10.1093/hmg/10.2.99
- By:
- Publication type:
- Article
Impaired membrane traffic in defective ether lipid biosynthesis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 127, doi. 10.1093/hmg/10.2.127
- By:
- Publication type:
- Article
Neurological abnormalities in a knock-in mouse model of Huntington’s disease.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 137, doi. 10.1093/hmg/10.2.137
- By:
- Publication type:
- Article
Abnormalities in the functioning of adipocytes from R6/2 mice that are transgenic for the Huntington's disease mutation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 145, doi. 10.1093/hmg/10.2.145
- By:
- Publication type:
- Article
Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 107, doi. 10.1093/hmg/10.2.107
- By:
- Publication type:
- Article
Mouse models for the Wolf-Hirschhorn deletion syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 91, doi. 10.1093/hmg/10.2.91
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- Publication type:
- Article
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 153, doi. 10.1093/hmg/10.2.153
- By:
- Publication type:
- Article
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 117, doi. 10.1093/hmg/10.2.117
- By:
- Publication type:
- Article
Neurological abnormalities in a knock-in mouse model of Huntington's disease.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 137, doi. 10.1093/hmg/10.2.137
- By:
- Publication type:
- Article
Mouse models for the Wolf–Hirschhorn deletion syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 91, doi. 10.1093/hmg/10.2.91
- By:
- Publication type:
- Article
Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 107, doi. 10.1093/hmg/10.2.107
- By:
- Publication type:
- Article
Abnormalities in the functioning of adipocytes from R6/2 mice that are transgenic for the Huntington’s disease mutation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 145, doi. 10.1093/hmg/10.2.145
- By:
- Publication type:
- Article
Impaired membrane traffic in defective ether lipid biosynthesis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 127, doi. 10.1093/hmg/10.2.127
- By:
- Publication type:
- Article
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 117, doi. 10.1093/hmg/10.2.117
- By:
- Publication type:
- Article
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 153, doi. 10.1093/hmg/10.2.153
- By:
- Publication type:
- Article
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 99, doi. 10.1093/hmg/10.2.99
- By:
- Publication type:
- Article
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 2, p. 163, doi. 10.1093/hmg/10.2.163
- By:
- Publication type:
- Article