Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 11
Results: 17
PINK1 mutations: Does the dosage make the poison?
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. v, doi. 10.1002/humu.21139
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- Publication type:
- Article
Update on mutations in glucokinase ( GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
- Published in:
- 2009
- By:
- Publication type:
- Other
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1535, doi. 10.1002/humu.21095
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- Publication type:
- Article
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit ( GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. E956, doi. 10.1002/humu.21099
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- Publication type:
- Article
Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. E984, doi. 10.1002/humu.21113
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- Publication type:
- Article
Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. E974, doi. 10.1002/humu.21100
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- Publication type:
- Article
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C ( cblC) with homocystinuria (MMACHC).
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1558, doi. 10.1002/humu.21107
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- Publication type:
- Article
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1543, doi. 10.1002/humu.21101
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- Publication type:
- Article
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1583, doi. 10.1002/humu.21112
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- Publication type:
- Article
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1574, doi. 10.1002/humu.21116
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- Publication type:
- Article
The genetic basis of long QT and short QT syndromes: A mutation update.
- Published in:
- 2009
- By:
- Publication type:
- Other
Selective amplification of mutant DNA: Mutations come to light in melting DNA.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. v, doi. 10.1002/humu.21140
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- Publication type:
- Article
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1567, doi. 10.1002/humu.21115
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- Publication type:
- Article
Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1551, doi. 10.1002/humu.21108
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- Publication type:
- Article
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. E993, doi. 10.1002/humu.21119
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- Publication type:
- Article
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
- Published in:
- 2009
- By:
- Publication type:
- Other
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1527, doi. 10.1002/humu.21092
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- Publication type:
- Article