Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 10
Results: 19
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1118, doi. 10.1002/humu.21542
- By:
- Publication type:
- Article
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1153, doi. 10.1002/humu.21553
- By:
- Publication type:
- Article
Digenic Inheritance in Axenfeld Rieger Syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. iv, doi. 10.1002/humu.21593
- By:
- Publication type:
- Article
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1114, doi. 10.1002/humu.21546
- By:
- Publication type:
- Article
On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1075, doi. 10.1002/humu.21557
- By:
- Publication type:
- Article
Non-Canonical DNA Structures in Genomic DNA and Their Role in Predisposition to Mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. iv, doi. 10.1002/humu.21592
- By:
- Publication type:
- Article
Disrupted posttranscriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5′UTR mutation is associated with a cftr-related disease.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. E2266, doi. 10.1002/humu.21545
- By:
- Publication type:
- Article
DRUMS: A human disease related unique gene mutation search engine.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. E2259, doi. 10.1002/humu.21556
- By:
- Publication type:
- Article
Rare disease registries and mutation/variation databases.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1073, doi. 10.1002/humu.21596
- By:
- Publication type:
- Article
The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1100, doi. 10.1002/humu.21551
- By:
- Publication type:
- Article
A cis-acting regulatory variation of the estrogen receptor α ( ESR1) gene is associated with hepatitis B virus-related liver cirrhosis.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1128, doi. 10.1002/humu.21544
- By:
- Publication type:
- Article
Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1161, doi. 10.1002/humu.21555
- By:
- Publication type:
- Article
Prediction of functional regulatory SNPs in monogenic and complex disease.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1183, doi. 10.1002/humu.21559
- By:
- Publication type:
- Article
Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1108, doi. 10.1002/humu.21543
- By:
- Publication type:
- Article
Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1144, doi. 10.1002/humu.21550
- By:
- Publication type:
- Article
Temperature and pharmacological rescue of a folding-defective, dominantl-negative K<sub>V</sub>7.2 mutation associated with neonatal seizures.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. E2283, doi. 10.1002/humu.21554
- By:
- Publication type:
- Article
A Severe Form of Abetalipoproteinemia Caused by New Splicing Mutations of Microsomal Triglyceride Transfer Protein.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1191, doi. 10.1002/humu.21594
- By:
- Publication type:
- Article
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1137, doi. 10.1002/humu.21547
- By:
- Publication type:
- Article
New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1171, doi. 10.1002/humu.21558
- By:
- Publication type:
- Article