Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 153, doi. 10.1034/j.1399-0004.2003.00084.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2003 AND VI 64 AND IP 2
Results: 18
1
2
Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 137, doi. 10.1034/j.1399-0004.2003.00090.x
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- Publication type:
- Article
3
Clinical, pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 111, doi. 10.1034/j.1399-0004.2003.00097.x
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- Publication type:
- Article
4
Presumed mutation in a microsatellite marker mimicking segmental uniparental disomy in a case of a small supernumerary marker chromosome detected at prenatal diagnosis.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 168, doi. 10.1034/j.1399-0004.2003.00102.x
- Publication type:
- Article
5
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 142, doi. 10.1034/j.1399-0004.2003.00106.x
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- Publication type:
- Article
6
Who gets the information about genetic testing for cancer risk? The role of race/ethnicity, immigration status, and primary care clinicians.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 131, doi. 10.1034/j.1399-0004.2003.00112.x
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- Publication type:
- Article
7
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 160, doi. 10.1034/j.1399-0004.2003.00113.x
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- Publication type:
- Article
8
Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA heteromorphism.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 166, doi. 10.1034/j.1399-0004.2003.00114.x
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- Publication type:
- Article
9
Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 122, doi. 10.1034/j.1399-0004.2003.00116.x
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- Publication type:
- Article
10
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 163, doi. 10.1034/j.1399-0004.2003.00117.x
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- Publication type:
- Article
11
X-linked myotubular myopathy in a family with three adult survivors.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 148, doi. 10.1034/j.1399-0004.2003.00118.x
- By:
- Publication type:
- Article
12
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 172, doi. 10.1034/j.1399-0004.2003.00119.x
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- Publication type:
- Article
13
Syndromes of disordered chromatin remodeling.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 83, doi. 10.1034/j.1399-0004.2003.00124.x
- By:
- Publication type:
- Article
14
The genetics of pre-eclampsia: a feto-placental or maternal problem?
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 96, doi. 10.1034/j.1399-0004.2003.00127.x
- By:
- Publication type:
- Article
15
The road to IRAK: mutations in the toll-like receptor signaling pathway cause susceptibility to pyogenic bacterial infections.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 104, doi. 10.1034/j.1399-0004.2003.00130.x
- By:
- Publication type:
- Article
16
Something lost in the translation: ‘premutations’ in the FMR1 gene cause Fragile X tremor/ataxia syndrome (FXTAS).
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 106, doi. 10.1034/j.1399-0004.2003.t01-1-00130.x
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- Publication type:
- Article
17
Hepcidin's handiwork in hereditary hemochromatosis.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 2, p. 108, doi. 10.1034/j.1399-0004.2003.t01-2-00130.x
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- Publication type:
- Article
18
Erratum.
- Published in:
- 2003
- Publication type:
- Correction Notice