Found: 37
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Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E520, doi. 10.1002/humu.20966
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- Publication type:
- Article
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E490, doi. 10.1002/humu.20941
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- Publication type:
- Article
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 438, doi. 10.1002/humu.20912
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- Publication type:
- Article
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 379, doi. 10.1002/humu.20868
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- Publication type:
- Article
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E500, doi. 10.1002/humu.20945
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- Publication type:
- Article
A<sub>1</sub>ATVar: a relational database of human SERPINA1 gene variants leading to α<sub>1</sub>-antitrypsin deficiency and application of the VariVis software.
- Published in:
- 2009
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- Publication type:
- Other
Protein sequences encode safeguards against aggregation.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 431, doi. 10.1002/humu.20905
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- Publication type:
- Article
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 454, doi. 10.1002/humu.20933
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- Publication type:
- Article
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 411, doi. 10.1002/humu.20879
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- Publication type:
- Article
Fertility defects revealing germline biallelic nonsense NBN mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 424, doi. 10.1002/humu.20904
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- Publication type:
- Article
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 391, doi. 10.1002/humu.20870
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- Publication type:
- Article
An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus.
- Published in:
- 2009
- By:
- Publication type:
- Other
Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: Structural implications of amino acid substitutions in PK.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 446, doi. 10.1002/humu.20915
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- Publication type:
- Article
SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 371, doi. 10.1002/humu.20863
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- Publication type:
- Article
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 321, doi. 10.1002/humu.20874
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- Publication type:
- Article
Annotated chromosome maps for renal disease.
- Published in:
- 2009
- By:
- Publication type:
- Other
Converging on Alzheimer Disease loci in chromosome 10.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. vii, doi. 10.1002/humu.20999
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- Publication type:
- Article
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E467, doi. 10.1002/humu.20932
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- Publication type:
- Article
MedRefSNP: A database of medically investigated SNPs.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E460, doi. 10.1002/humu.20914
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- Publication type:
- Article
Mechanistic insights into the link between a polymorphism of the 3′UTR of the SLC7A1 gene and hypertension.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 328, doi. 10.1002/humu.20891
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- Publication type:
- Article
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 363, doi. 10.1002/humu.20862
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- Publication type:
- Article
Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 472, doi. 10.1002/humu.20873
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- Publication type:
- Article
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 293, doi. 10.1002/humu.20918
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- Publication type:
- Article
Neurofibromatosis type 1 antisense therapy on the horizon?
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. vii, doi. 10.1002/humu.20998
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- Publication type:
- Article
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 352, doi. 10.1002/humu.20855
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- Publication type:
- Article
ATP13A2 variability in Parkinson disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 406, doi. 10.1002/humu.20877
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- Publication type:
- Article
Haplotypes of the NR4A2/NURR1 gene and cardiovascular disease: The Rotterdam Study.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 417, doi. 10.1002/humu.20902
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- Publication type:
- Article
Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 463, doi. 10.1002/humu.20953
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- Publication type:
- Article
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975
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- Publication type:
- Article
Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 275, doi. 10.1002/humu.20832
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- Publication type:
- Article
Combining the interactome and deleterious SNP predictions to improve disease gene identification.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 485, doi. 10.1002/humu.20917
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- Publication type:
- Article
Genomic microarrays in mental retardation: A practical workflow for diagnostic applications.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 283, doi. 10.1002/humu.20883
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- Publication type:
- Article
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 334, doi. 10.1002/humu.20854
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- Publication type:
- Article
The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E481, doi. 10.1002/humu.20939
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- Publication type:
- Article
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876
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- Publication type:
- Article
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
- Published in:
- 2009
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- Publication type:
- Other
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 342, doi. 10.1002/humu.20858
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- Publication type:
- Article