Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 7
Results: 18
The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 863, doi. 10.1002/humu.23240
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- Publication type:
- Article
Assessment of variant pathogenicity in a highly admixed population.
- Published in:
- 2017
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- Publication type:
- Other
Prenatal diagnosis: Down syndrome or more?
- Published in:
- 2017
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- Publication type:
- Other
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
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- Human Mutation, 2017, v. 38, n. 7, p. 849, doi. 10.1002/humu.23243
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- Publication type:
- Article
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
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- Human Mutation, 2017, v. 38, n. 7, p. 805, doi. 10.1002/humu.23219
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- Publication type:
- Article
Issue Information.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 745, doi. 10.1002/humu.23094
- Publication type:
- Article
HLA-HD: An accurate HLA typing algorithm for next-generation sequencing data.
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- Human Mutation, 2017, v. 38, n. 7, p. 788, doi. 10.1002/humu.23230
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- Publication type:
- Article
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
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- Human Mutation, 2017, v. 38, n. 7, p. 880, doi. 10.1002/humu.23232
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- Publication type:
- Article
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
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- Human Mutation, 2017, v. 38, n. 7, p. 764, doi. 10.1002/humu.23233
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- Publication type:
- Article
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 839, doi. 10.1002/humu.23236
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- Publication type:
- Article
panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.
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- Human Mutation, 2017, v. 38, n. 7, p. 889, doi. 10.1002/humu.23237
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- Publication type:
- Article
Cover Image, Volume 38, Issue 7.
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- Human Mutation, 2017, v. 38, n. 7, p. i, doi. 10.1002/humu.23273
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- Article
Exomic variants of an elderly cohort of Brazilians in the ABraOM database.
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- Human Mutation, 2017, v. 38, n. 7, p. 751, doi. 10.1002/humu.23220
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- Publication type:
- Article
Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
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- Human Mutation, 2017, v. 38, n. 7, p. 816, doi. 10.1002/humu.23221
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- Publication type:
- Article
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 870, doi. 10.1002/humu.23223
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- Publication type:
- Article
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
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- Human Mutation, 2017, v. 38, n. 7, p. 798, doi. 10.1002/humu.23224
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- Publication type:
- Article
Genetic variants in microRNAs and their binding sites within gene 3′UTRs associate with susceptibility to age-related macular degeneration.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 827, doi. 10.1002/humu.23226
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- Publication type:
- Article
DaMold: A data-mining platform for variant annotation and visualization in molecular diagnostics research.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 778, doi. 10.1002/humu.23227
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- Publication type:
- Article