Still more from FGFR: LADD syndrome caused by different mutations in FGFR and their ligands.
- Published in:
- 2006
- By:
- Publication type:
- Other
Works matching IS 00099163 AND DT 2006 AND VI 70 AND IP 1
Results: 21
1
2
Announcement.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 88, doi. 10.1111/j.1399-0004.2006.00626.x
- Publication type:
- Article
3
Pharmacogenetics of antidepressants: serotonin 2A receptor genotype strongly associated with treatment outcome.
- Published in:
- 2006
- By:
- Publication type:
- Other
4
Is loss of function of PCSK9 a key in the protection against atherosclerotic cardiovascular disease?
- Published in:
- 2006
- By:
- Publication type:
- Other
5
Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 −455T>C polymorphisms on the susceptibility to diabetic nephropathy.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 20, doi. 10.1111/j.1399-0004.2006.00628.x
- By:
- Publication type:
- Article
6
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 29, doi. 10.1111/j.1399-0004.2006.00629.x
- By:
- Publication type:
- Article
7
Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers.
- Published in:
- 2006
- By:
- Publication type:
- Letter
8
Clinical and genetic variability of oculodentodigital dysplasia.
- Published in:
- 2006
- By:
- Publication type:
- Letter
9
Detection of a novel Alu-mediated BRCA1 exon 13 duplication in Chinese breast cancer patients and implications for genetic testing.
- Published in:
- 2006
- By:
- Publication type:
- Letter
10
Genetic knowledge among participants of a German pilot study on hemochromatosis screening.
- Published in:
- 2006
- By:
- Publication type:
- Letter
11
A cryptic full mutation in a male with a classical Fragile X phenotype.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 39, doi. 10.1111/j.1399-0004.2006.00634.x
- By:
- Publication type:
- Article
12
Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 43, doi. 10.1111/j.1399-0004.2006.00635.x
- By:
- Publication type:
- Article
13
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 63, doi. 10.1111/j.1399-0004.2006.00642.x
- By:
- Publication type:
- Article
14
A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott–Rallison syndrome.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 34, doi. 10.1111/j.1399-0004.2006.00632.x
- By:
- Publication type:
- Article
15
Note.
- Published in:
- 2006
- Publication type:
- Erratum
16
Genetic association between endothelial nitric oxide synthase and Alzheimer disease.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 49, doi. 10.1111/j.1399-0004.2006.00638.x
- By:
- Publication type:
- Article
17
Cerebrospinal fluid levels of orexin-A are not a clinically useful biomarker for Huntington disease.
- Published in:
- 2006
- By:
- Publication type:
- Letter
18
Gonadal mosaicism in hereditary angioedema.
- Published in:
- 2006
- By:
- Publication type:
- Letter
19
Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent.
- Published in:
- 2006
- By:
- Publication type:
- Letter
20
Neurofibromin: a general outlook.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 1, doi. 10.1111/j.1399-0004.2006.00639.x
- By:
- Publication type:
- Article
21
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 1, p. 57, doi. 10.1111/j.1399-0004.2006.00641.x
- By:
- Publication type:
- Article