Absence of COCH mutations in patients with Meniere disease.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 75, doi. 10.1038/sj.ejhg.5201065
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- Publication type:
- Article
Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 1
Results: 13
1
2
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 24, doi. 10.1038/sj.ejhg.5201080
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- Publication type:
- Article
3
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 16, doi. 10.1038/sj.ejhg.5201081
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- Publication type:
- Article
4
A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 29, doi. 10.1038/sj.ejhg.5201085
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- Publication type:
- Article
5
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 44, doi. 10.1038/sj.ejhg.5201086
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- Publication type:
- Article
6
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 38, doi. 10.1038/sj.ejhg.5201087
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- Publication type:
- Article
7
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 52, doi. 10.1038/sj.ejhg.5201088
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- Publication type:
- Article
8
SLC11A1 (formerly NRAMP1) and susceptibility to visceral leishmaniasis in The Sudan.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 66, doi. 10.1038/sj.ejhg.5201089
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- Publication type:
- Article
9
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 79, doi. 10.1038/sj.ejhg.5201093
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- Publication type:
- Article
10
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201102
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- Publication type:
- Article
11
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 2, doi. 10.1038/sj.ejhg.5201108
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- Publication type:
- Article
12
Electronic EJHG: The Web and the Wider World.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 1, doi. 10.1038/sj.ejhg.5201139
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- Publication type:
- Article
13
Y chrosomal heritage of Croatian population and its island isolates.
- Published in:
- 2004
- By:
- Publication type:
- Correction Notice