A frameshift mutation in peroxisome-proliferator-activated receptor-γ in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367).
- Published in:
- 2006
- By:
- Publication type:
- Letter
Works matching IS 00099163 AND DT 2006 AND VI 70 AND IP 4
Results: 16
1
2
Ironing out neurodegeneration: mutations in a phospholipase A<sub>2</sub> cause neurodegenerative diseases with iron accumulation.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 306, doi. 10.1111/j.1399-0004.2006.00675_1.x
- By:
- Publication type:
- Article
3
Characterizing genetic wrinkles in sperm of advanced paternal age.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 307, doi. 10.1111/j.1399-0004.2006.0675_2.x
- By:
- Publication type:
- Article
4
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
- Published in:
- 2006
- By:
- Publication type:
- Letter
5
Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 283, doi. 10.1111/j.1399-0004.2006.00668.x
- By:
- Publication type:
- Article
6
Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 320, doi. 10.1111/j.1399-0004.2006.00673.x
- By:
- Publication type:
- Article
7
Genes for Joubert syndrome: CEP290 is in the middle of it.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 309, doi. 10.1111/j.1399-0004.2006.0675_3.x
- By:
- Publication type:
- Article
8
The laminopathies: a clinical review.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 261, doi. 10.1111/j.1399-0004.2006.00677.x
- By:
- Publication type:
- Article
9
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 339, doi. 10.1111/j.1399-0004.2006.00679.x
- By:
- Publication type:
- Article
10
Variability and inequity in testing of somatic tissue for hereditary cancer: a survey of UK clinical practice.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 312, doi. 10.1111/j.1399-0004.2006.00676.x
- By:
- Publication type:
- Article
11
Developmental programming of hypothalamic feeding circuits.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 295, doi. 10.1111/j.1399-0004.2006.00684.x
- By:
- Publication type:
- Article
12
Stem cell research: cloning, therapy and scientific fraud.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 302, doi. 10.1111/j.1399-0004.2006.00678.x
- By:
- Publication type:
- Article
13
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 330, doi. 10.1111/j.1399-0004.2006.00687.x
- By:
- Publication type:
- Article
14
Molecular background of polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 348, doi. 10.1111/j.1399-0004.2006.00690.x
- By:
- Publication type:
- Article
15
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 275, doi. 10.1111/j.1399-0004.2006.00688.x
- By:
- Publication type:
- Article
16
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 4, p. 336, doi. 10.1111/j.1399-0004.2006.00691.x
- By:
- Publication type:
- Article