Works matching IS 13646745 AND DT 2004 AND VI 5 AND IP 3
Results: 8
Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes.
- Published in:
- Neurogenetics, 2004, v. 5, n. 3, p. 197, doi. 10.1007/s10048-004-0185-0
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- Article
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.
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- Neurogenetics, 2004, v. 5, n. 3, p. 191, doi. 10.1007/s10048-004-0187-y
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- Article
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
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- Neurogenetics, 2004, v. 5, n. 3, p. 187, doi. 10.1007/s10048-004-0182-3
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- Article
A G301R Na<sup>+</sup>/K<sup>+</sup>-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
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- Neurogenetics, 2004, v. 5, n. 3, p. 177, doi. 10.1007/s10048-004-0183-2
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- Article
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
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- Neurogenetics, 2004, v. 5, n. 3, p. 171, doi. 10.1007/s10048-004-0184-1
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- Article
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
- Published in:
- Neurogenetics, 2004, v. 5, n. 3, p. 165, doi. 10.1007/s10048-004-0179-y
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- Article
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
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- Neurogenetics, 2004, v. 5, n. 3, p. 157, doi. 10.1007/s10048-004-0186-z
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- Article
Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype.
- Published in:
- Neurogenetics, 2004, v. 5, n. 3, p. 147, doi. 10.1007/s10048-004-0180-5
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- Article