Found: 13
Select item for more details and to access through your institution.
Iron–sulfur protein maturation in human cells: evidence for a function of frataxin.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 3007, doi. 10.1093/hmg/ddh324
- By:
- Publication type:
- Article
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2997, doi. 10.1093/hmg/ddh323
- By:
- Publication type:
- Article
Case–control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2991, doi. 10.1093/hmg/ddh322
- By:
- Publication type:
- Article
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 3017, doi. 10.1093/hmg/ddh321
- By:
- Publication type:
- Article
A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2947, doi. 10.1093/hmg/ddh320
- By:
- Publication type:
- Article
The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2919, doi. 10.1093/hmg/ddh319
- By:
- Publication type:
- Article
CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2907, doi. 10.1093/hmg/ddh318
- By:
- Publication type:
- Article
Genome-wide demethylation destabilizes CTG·CAG trinucleotide repeats in mammalian cells.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2979, doi. 10.1093/hmg/ddh317
- By:
- Publication type:
- Article
ATM is required for the cellular response to thymidine induced replication fork stress.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2937, doi. 10.1093/hmg/ddh316
- By:
- Publication type:
- Article
Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2925, doi. 10.1093/hmg/ddh315
- By:
- Publication type:
- Article
Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2971, doi. 10.1093/hmg/ddh314
- By:
- Publication type:
- Article
Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2959, doi. 10.1093/hmg/ddh313
- By:
- Publication type:
- Article
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 23, p. 2893, doi. 10.1093/hmg/ddh312
- By:
- Publication type:
- Article