Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 3
Results: 19
DIAMUND: Direct Comparison of Genomes to Detect Mutations.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 283, doi. 10.1002/humu.22503
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- Publication type:
- Article
Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of Glc NAc-1-Phosphotransferase Precursor Protein ( GNPTAB).
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 368, doi. 10.1002/humu.22502
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- Publication type:
- Article
ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing.
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- Human Mutation, 2014, v. 35, n. 3, p. 271, doi. 10.1002/humu.22484
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- Publication type:
- Article
Gender and Cell-Type-Specific Effects of the Transcription-Coupled Repair Protein, ERCC6/ CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 341, doi. 10.1002/humu.22495
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- Publication type:
- Article
Enhanced Sensitivity for Detection of Low-Level Germline Mosaic RB1 Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 384, doi. 10.1002/humu.22488
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- Publication type:
- Article
An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease.
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- Human Mutation, 2014, v. 35, n. 3, p. 303, doi. 10.1002/humu.22499
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- Publication type:
- Article
Novel Dynein DYNC1 H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 298, doi. 10.1002/humu.22491
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- Publication type:
- Article
Heterozygote PCR Product Melting Curve Prediction.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 278, doi. 10.1002/humu.22494
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- Publication type:
- Article
Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality.
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- Human Mutation, 2014, v. 35, n. 3, p. 350, doi. 10.1002/humu.22498
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- Publication type:
- Article
A New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 392, doi. 10.1002/humu.22501
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- Publication type:
- Article
Contents.
- Published in:
- 2014
- Publication type:
- Other
A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 289, doi. 10.1002/humu.22482
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- Publication type:
- Article
Activating Mutations Cluster in the 'Molecular Brake' Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 318, doi. 10.1002/humu.22493
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- Publication type:
- Article
Disease-causing Enhancer Variants: A Question of Penetrance.
- Published in:
- 2014
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- Publication type:
- Other
Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1 A.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 356, doi. 10.1002/humu.22500
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- Publication type:
- Article
Retinitis Pigmentosa Mutations of SNRNP200 Enhance Cryptic Splice-Site Recognition.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 308, doi. 10.1002/humu.22481
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- Publication type:
- Article
Tumor Heterogeneity Revealed by KRAS, BRAF, and PIK3 CA Pyrosequencing: KRAS and PIK3 CA Intratumor Mutation Profile Differences and Their Therapeutic Implications.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 329, doi. 10.1002/humu.22496
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- Publication type:
- Article
Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 294, doi. 10.1002/humu.22489
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- Publication type:
- Article
Increased Dosage of RAB39 B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains.
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- Human Mutation, 2014, v. 35, n. 3, p. 377, doi. 10.1002/humu.22497
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- Publication type:
- Article