Standardization of PCR amplification for fragile X trinucleotide repeat measurements*.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 13, doi. 10.1034/j.1399-0004.2002.610103.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2002 AND VI 61 AND IP 1
Results: 17
1
2
Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 71, doi. 10.1034/j.1399-0004.2002.10114.x
- By:
- Publication type:
- Article
3
Autosomal dominant isolated velopharyngeal insufficiency.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 74, doi. 10.1034/j.1399-0004.2002.610115.x
- By:
- Publication type:
- Article
4
Table of Contents.
- Published in:
- 2002
- Publication type:
- Table of Contents
5
A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 77, doi. 10.1034/j.1399-0004.2002.610116.x
- By:
- Publication type:
- Article
6
Telomere-specific fluorescence in situ hybridization analysis of couples with five or more recurrent miscarriages.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 26, doi. 10.1034/j.1399-0004.2002.610105.x
- By:
- Publication type:
- Article
7
Genetic Services.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 1, doi. 10.1034/j.1399-0004.2002.610101.x
- By:
- Publication type:
- Article
8
HotSpots.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 7, doi. 10.1034/j.1399-0004.2002.610102.x
- By:
- Publication type:
- Article
9
A previously undescribed nonsense mutation of the HFE gene.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 40, doi. 10.1034/j.1399-0004.2002.610108.x
- By:
- Publication type:
- Article
10
A prospective evaluation of the angiotensin-converting enzyme D/I polymorphism and left ventricular remodeling in the ‘Healing and Early Afterload Reducing Therapy’ Study.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 21, doi. 10.1034/j.1399-0004.2002.610104.x
- By:
- Publication type:
- Article
11
Association of a polymorphism of the ecNOS gene with myocardial infarction in a subgroup of Turkish MI patients.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 66, doi. 10.1034/j.1399-0004.2002.610113.x
- By:
- Publication type:
- Article
12
The E326K mutation and Gaucher disease: mutation or polymorphism?
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 32, doi. 10.1034/j.1399-0004.2002.610106.x
- By:
- Publication type:
- Article
13
Fertility and pregnancy outcome in Danish women with Turner syndrome.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 35, doi. 10.1034/j.1399-0004.2002.610107.x
- By:
- Publication type:
- Article
14
Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain).
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 43, doi. 10.1034/j.1399-0004.2002.610109.x
- By:
- Publication type:
- Article
15
Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 49, doi. 10.1034/j.1399-0004.2001.610110.x
- By:
- Publication type:
- Article
16
Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 54, doi. 10.1034/j.1399-0004.2002.610111.x
- By:
- Publication type:
- Article
17
Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies).
- Published in:
- Clinical Genetics, 2002, v. 61, n. 1, p. 62, doi. 10.1034/j.1399-0004.2002.610112.x
- By:
- Publication type:
- Article