Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 6, doi. 10.1111/j.1399-0004.2004.00319.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2005 AND VI 67 AND IP 1
Results: 18
1
2
Research in human genetics: the tension between doing no harm and personal autonomy.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 1, doi. 10.1111/j.1399-0004.2004.00324.x
- By:
- Publication type:
- Article
3
Evidence for single origins of 35delG and delE120 mutations in theGJB2gene in Anatolia.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 31, doi. 10.1111/j.1399-0004.2004.00334.x
- By:
- Publication type:
- Article
4
FMR1 alleles in Tasmania: a screening study of the special educational needs population.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 38, doi. 10.1111/j.1399-0004.2004.00344.x
- By:
- Publication type:
- Article
5
Sporadic optic atrophy due to synonymous codon change altering mRNA splicing ofOPA1.
- Published in:
- 2005
- By:
- Publication type:
- Letter
6
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 93, doi. 10.1111/j.1399-0004.2004.00369.x
- By:
- Publication type:
- Article
7
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 87, doi. 10.1111/j.1399-0004.2005.00370.x
- By:
- Publication type:
- Article
8
Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 98, doi. 10.1111/j.1399-0004.2004.00372.x
- By:
- Publication type:
- Article
9
Maternal mutation 677C > T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 69, doi. 10.1111/j.1399-0004.2004.00373.x
- By:
- Publication type:
- Article
10
Mutations in TGF-β receptor type-2 cause Marfan's syndrome.
- Published in:
- 2005
- By:
- Publication type:
- Other
11
RNAi applied to a neurodegenerative mouse model.
- Published in:
- 2005
- By:
- Publication type:
- Other
12
A dramatic case of early-onset familial adenomatous polyposis.
- Published in:
- 2005
- By:
- Publication type:
- Letter
13
Multiple rare alleles influence a complex trait: the case of HDL cholesterol.
- Published in:
- 2005
- By:
- Publication type:
- Other
14
Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 47, doi. 10.1111/j.1399-0004.2005.00377.x
- By:
- Publication type:
- Article
15
The Hunter–McAlpine syndrome results from duplication 5q35–qter.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 53, doi. 10.1111/j.1399-0004.2005.00378.x
- By:
- Publication type:
- Article
16
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 61, doi. 10.1111/j.1399-0004.2005.00379.x
- By:
- Publication type:
- Article
17
A novelSTK11germline mutation in two siblings with Peutz–Jeghers syndrome complicated by primary gastric cancer.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 81, doi. 10.1111/j.1399-0004.2005.00380.x
- By:
- Publication type:
- Article
18
The endless quest for sex determination genes.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 1, p. 15, doi. 10.1111/j.1399-0004.2004.00376.x
- By:
- Publication type:
- Article