Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 126, doi. 10.1034/j.1399-0004.2003.00008.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2003 AND VI 63 AND IP 2
Results: 18
1
2
Sporadic and familial blepharophimosis –ptosis–epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 117, doi. 10.1034/j.1399-0004.2003.00011.x
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- Publication type:
- Article
3
Cystic fibrosis mutation frequencies in an Irish population.
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- Clinical Genetics, 2003, v. 63, n. 2, p. 121, doi. 10.1034/j.1399-0004.2003.00017.x
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- Publication type:
- Article
4
A novel mutation in exon 7 in a family with mild tricho–rhino–phalangeal syndrome type I.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 166, doi. 10.1034/j.1399-0004.2003.00024.x
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- Publication type:
- Article
5
The PPAR-gamma P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome: results from the Québec Family Study.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 109, doi. 10.1034/j.1399-0004.2003.00026.x
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- Publication type:
- Article
6
Rapid detection methods for five HGO gene mutations causing alkaptonuria.
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- Clinical Genetics, 2003, v. 63, n. 2, p. 145, doi. 10.1034/j.1399-0004.2003.00027.x
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- Publication type:
- Article
7
Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene.
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- Clinical Genetics, 2003, v. 63, n. 2, p. 163, doi. 10.1034/j.1399-0004.2003.00028.x
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- Publication type:
- Article
8
The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibers in human skeletal muscle.
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- Clinical Genetics, 2003, v. 63, n. 2, p. 139, doi. 10.1034/j.1399-0004.2003.00029.x
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- Publication type:
- Article
9
Landmarks in genetics through philately: the tools used by dysmorphologists.
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- Clinical Genetics, 2003, v. 63, n. 2, p. 105, doi. 10.1034/j.1399-0004.2003.00030.x
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- Publication type:
- Article
10
Mutation analysis of Connexin 31 (GJB3 ) in sporadic non-syndromic hearing impairment.
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- Clinical Genetics, 2003, v. 63, n. 2, p. 154, doi. 10.1034/j.1399-0004.2003.00031.x
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- Publication type:
- Article
11
Biallelic inactivation of BRCA2 in Fanconi anemia Howlet NG et al. (2002) Science 297: 606–609.
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- Clinical Genetics, 2003, v. 63, n. 2, p. 102, doi. 10.1034/j.1399-0004.2003.00042_1.x
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- Publication type:
- Article
12
BRCA1 interacts directly with the Fanconi anemia protein FANCA Folias A et al. (2002) Hum Mol Genet 11: 2591–2597.
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- Clinical Genetics, 2003, v. 63, n. 2, p. 102, doi. 10.1034/j.1399-0004.2003.00042_2.x
- Publication type:
- Article
13
DNA crosslink-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein Pichierri P et al. (2002) Hum Mol Genet 11: 2531–2546.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 102, doi. 10.1034/j.1399-0004.2003.00042_2.x
- Publication type:
- Article
14
Genetic epidemiology of amyotrophic lateral sclerosis.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 83, doi. 10.1046/j.0009-9163.2002.00001.x
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- Publication type:
- Article
15
Aortic root diameter and nasal intermittent positive airway pressure treatment in Marfan's syndrome.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 131, doi. 10.1046/j.0009-9163.2002.00002.x
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- Publication type:
- Article
16
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 135, doi. 10.1046/j.0009-9163.2002.00175.x
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- Publication type:
- Article
17
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 150, doi. 10.1046/j.0009-9163.2002.00004.x
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- Publication type:
- Article
18
CARD15/NOD2 mutational analysis in Japanese patients with Crohn's disease.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 2, p. 160, doi. 10.1046/j.0009-9163.2002.00174.x
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- Publication type:
- Article