Found: 16
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Issue Information.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 1, doi. 10.1002/humu.23322
- Publication type:
- Article
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 5, doi. 10.1002/humu.23351
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- Publication type:
- Article
Cover Image, Volume 39, Issue 1.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. i, doi. 10.1002/humu.23372
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- Publication type:
- Article
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 23, doi. 10.1002/humu.23361
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- Publication type:
- Article
HUMA: A platform for the analysis of genetic variation in humans.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 40, doi. 10.1002/humu.23334
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- Publication type:
- Article
The evolution of a Web resource: The Galactosemia Proteins Database 2.0.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 52, doi. 10.1002/humu.23346
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- Publication type:
- Article
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 61, doi. 10.1002/humu.23348
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- Publication type:
- Article
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 69, doi. 10.1002/humu.23345
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- Publication type:
- Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
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- Publication type:
- Article
Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochrome b gene.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 92, doi. 10.1002/humu.23350
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- Publication type:
- Article
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 103, doi. 10.1002/humu.23355
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- Publication type:
- Article
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 114, doi. 10.1002/humu.23353
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- Publication type:
- Article
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 124, doi. 10.1002/humu.23354
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- Publication type:
- Article
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 140, doi. 10.1002/humu.23359
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- Publication type:
- Article
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 152, doi. 10.1002/humu.23362
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- Publication type:
- Article
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 167, doi. 10.1002/humu.23356
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- Publication type:
- Article