Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 1
Results: 23
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
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- Human Mutation, 2011, v. 32, n. 1, p. 10, doi. 10.1002/humu.21390
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Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
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- Human Mutation, 2011, v. 32, n. 1, p. 116, doi. 10.1002/humu.21417
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Evaluation of germline BMP4 mutation as a cause of colorectal cancer.
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- Human Mutation, 2011, v. 32, n. 1, p. E1928, doi. 10.1002/humu.21376
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Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.
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- Human Mutation, 2011, v. 32, n. 1, p. 78, doi. 10.1002/humu.21387
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Evaluating Mutant mtDNA Tissue Distribution in Early Fetal Development.
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- Human Mutation, 2011, v. 32, n. 1, p. v, doi. 10.1002/humu.21434
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pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses.
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- Human Mutation, 2011, v. 32, n. 1, p. 19, doi. 10.1002/humu.21331
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HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups.
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- Human Mutation, 2011, v. 32, n. 1, p. 25, doi. 10.1002/humu.21382
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- Article
PRO-MINE: A Bioinformatics Repository and Analytical Tool for TARDBP Mutations.
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- Human Mutation, 2011, v. 32, n. 1, p. E1948, doi. 10.1002/humu.21393
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Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
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- Human Mutation, 2011, v. 32, n. 1, p. 107, doi. 10.1002/humu.21409
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- Article
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
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- Human Mutation, 2011, v. 32, n. 1, p. E1939, doi. 10.1002/humu.21386
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Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.
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- Human Mutation, 2011, v. 32, n. 1, p. 2, doi. 10.1002/humu.21397
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Stepwise Functional Assessment of Unclassified DNA Variants.
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- Human Mutation, 2011, v. 32, n. 1, p. v, doi. 10.1002/humu.21433
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Legius syndrome in fourteen families.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. E1985, doi. 10.1002/humu.21404
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MET mutations in cancers of unknown primary origin (CUPs).
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- Human Mutation, 2011, v. 32, n. 1, p. 44, doi. 10.1002/humu.21374
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- Article
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
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- Human Mutation, 2011, v. 32, n. 1, p. 51, doi. 10.1002/humu.21385
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Statistical inference of allelic imbalance from transcriptome data.
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- Human Mutation, 2011, v. 32, n. 1, p. 98, doi. 10.1002/humu.21396
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'Mutation in brief' online articles discontinued-introducing 'brief reports'.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. 1, doi. 10.1002/humu.21425
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- Article
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
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- Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373
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- Article
Only four genes ( EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
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- Human Mutation, 2011, v. 32, n. 1, p. 70, doi. 10.1002/humu.21384
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- Publication type:
- Article
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
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- Human Mutation, 2011, v. 32, n. 1, p. 91, doi. 10.1002/humu.21395
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- Article
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
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- Human Mutation, 2011, v. 32, n. 1, p. 33, doi. 10.1002/humu.21377
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Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
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- Human Mutation, 2011, v. 32, n. 1, p. 59, doi. 10.1002/humu.21388
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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.
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- Human Mutation, 2011, v. 32, n. 1, p. E1976, doi. 10.1002/humu.21399
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- Article