Volume 12; Issue 5

Main
Human Molecular Genetics
Volume 12; Issue 5

Human Molecular Genetics

Volume 12; Issue 5

1

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2003

2

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 886 KB

english, 2003

3

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 904 KB

english, 2003

4

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2003

5

A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 964 KB

english, 2003

6

Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding site

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2003

7

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 157 KB

english, 2003

8

Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 526 KB

english, 2003

9

Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 2.77 MB

english, 2003

10

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2003

11

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 2.46 MB

english, 2003

12

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 904 KB

english, 2003

13

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Journal:

Human Molecular Genetics

Année:

2003

Fichier:

PDF, 1.56 MB

2003

14

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2003

15

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 887 KB

english, 2003

16

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2003

17

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2003

18

A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 964 KB

english, 2003

19

The voltage-gated potassium channel Kv1.3 regulates energy homeostasis and body weight

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 952 KB

english, 2003

20

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2

Journal:

Human Molecular Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 2.46 MB

english, 2003