Works matching IS 13646745 AND DT 2012 AND VI 13 AND IP 3
Results: 12
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 189, doi. 10.1007/s10048-012-0326-9
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- Article
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.
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- Neurogenetics, 2012, v. 13, n. 3, p. 275, doi. 10.1007/s10048-012-0327-8
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- Article
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
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- Neurogenetics, 2012, v. 13, n. 3, p. 195, doi. 10.1007/s10048-012-0328-7
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- Article
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
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- Neurogenetics, 2012, v. 13, n. 3, p. 205, doi. 10.1007/s10048-012-0331-z
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- Article
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
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- Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6
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- Article
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.
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- Neurogenetics, 2012, v. 13, n. 3, p. 229, doi. 10.1007/s10048-012-0332-y
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- Article
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.
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- Neurogenetics, 2012, v. 13, n. 3, p. 237, doi. 10.1007/s10048-012-0330-0
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- Article
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
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- Neurogenetics, 2012, v. 13, n. 3, p. 245, doi. 10.1007/s10048-012-0322-0
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- Article
A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B.
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- Neurogenetics, 2012, v. 13, n. 3, p. 251, doi. 10.1007/s10048-012-0333-x
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- Article
A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility.
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- Neurogenetics, 2012, v. 13, n. 3, p. 261, doi. 10.1007/s10048-012-0325-x
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- Article
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.
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- Neurogenetics, 2012, v. 13, n. 3, p. 281, doi. 10.1007/s10048-012-0334-9
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- Article
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 267, doi. 10.1007/s10048-012-0335-8
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- Article