Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 10
Results: 15
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1203, doi. 10.1002/humu.22617
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- Publication type:
- Article
Contents.
- Published in:
- 2014
- Publication type:
- Other
Redefining Mutational Spectra via Updated Locus-specific Databases.
- Published in:
- 2014
- By:
- Publication type:
- Other
Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1195, doi. 10.1002/humu.22616
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- Publication type:
- Article
Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1175, doi. 10.1002/humu.22622
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- Publication type:
- Article
A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1163, doi. 10.1002/humu.22631
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- Publication type:
- Article
Enrichment of LOVD- USHbases with 152 USH2 A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1179, doi. 10.1002/humu.22608
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- Publication type:
- Article
Evidence Against RAB40 AL Being the Locus for Martin- Probst X-Linked Deafness-Intellectual Disability Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1171, doi. 10.1002/humu.22620
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- Publication type:
- Article
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621
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- Publication type:
- Article
Mutation of POC1 B in a Severe Syndromic Retinal Ciliopathy.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1153, doi. 10.1002/humu.22618
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- Publication type:
- Article
Complex Tissue-Specific Epigenotypes in Russell- Silver Syndrome Associated with 11p15 ICR1 Hypomethylation.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1211, doi. 10.1002/humu.22623
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- Publication type:
- Article
Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1249, doi. 10.1002/humu.22624
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- Publication type:
- Article
A New Workflow for Whole-Genome Sequencing of Single Human Cells.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1260, doi. 10.1002/humu.22625
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- Publication type:
- Article
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1187, doi. 10.1002/humu.22626
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- Publication type:
- Article
A Functional SNP Catalog of Overlapping mi RNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative Disorders.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1233, doi. 10.1002/humu.22627
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- Publication type:
- Article