Works matching IS 00099163 AND DT 2007 AND VI 72 AND IP 3
Results: 17
SORL1 adds another piece to the complex puzzle of Alzheimer disease genetics.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 183, doi. 10.1111/j.1399-0004.2007.00844_1.x
- By:
- Publication type:
- Article
Unraveling intrinsic genetic factors in type 2 diabetes.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 184, doi. 10.1111/j.1399-0004.2007.00844_2.x
- By:
- Publication type:
- Article
New insights into autism from a comprehensive genetic map.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 186, doi. 10.1111/j.1399-0004.2007.00844_3.x
- By:
- Publication type:
- Article
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 188, doi. 10.1111/j.1399-0004.2007.00845.x
- By:
- Publication type:
- Article
High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 199, doi. 10.1111/j.1399-0004.2007.00849.x
- By:
- Publication type:
- Article
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson’s disease.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 218, doi. 10.1111/j.1399-0004.2007.00854.x
- By:
- Publication type:
- Article
CYR61 polymorphisms are associated with plasma HDL-cholesterol levels in obese individuals.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 224, doi. 10.1111/j.1399-0004.2007.00855.x
- By:
- Publication type:
- Article
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 230, doi. 10.1111/j.1399-0004.2007.00856.x
- By:
- Publication type:
- Article
Frequency of hemochromatosis gene ( HFE) mutations in Corsica (France).
- Published in:
- 2007
- By:
- Publication type:
- Letter
Detection of copy number changes at the NF1 locus with improved high-resolution array CGH.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 238, doi. 10.1111/j.1399-0004.2007.00858.x
- By:
- Publication type:
- Article
Development and testing of a decision aid for breast cancer prevention for women with a BRCA1 or BRCA2 mutation.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 208, doi. 10.1111/j.1399-0004.2007.00859.x
- By:
- Publication type:
- Article
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 245, doi. 10.1111/j.1399-0004.2007.00862.x
- By:
- Publication type:
- Article
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 255, doi. 10.1111/j.1399-0004.2007.00864.x
- By:
- Publication type:
- Article
Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 175, doi. 10.1111/j.1399-0004.2007.00877.x
- By:
- Publication type:
- Article
Genetics of autosomal recessive non-syndromic mental retardation: recent advances.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 3, p. 167, doi. 10.1111/j.1399-0004.2007.00881.x
- By:
- Publication type:
- Article