Found: 23
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Classification of Missense Variants in XRCC2 by Functional Analysis: Implications for Breast Cancer Association Studies.
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- Human Mutation, 2016, v. 37, n. 9, p. 172, doi. 10.1002/humu.22886
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- Article
Silent or Not Silent? Consequences of the Human mt-cyb Polymorphism.
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- Human Mutation, 2016, v. 37, n. 9, p. 172, doi. 10.1002/humu.22885
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- Article
Fourth-order energy-preserving locally implicit time discretization for linear wave equations.
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- Human Mutation, 2016, v. 37, n. 9, p. 593, doi. 10.1002/nme.5130
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- Article
A coupled discrete element-finite difference approach for modeling mechanical response of fluid-saturated porous materials.
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- Human Mutation, 2016, v. 37, n. 9, p. 623, doi. 10.1002/nme.5134
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- Article
Projection-based model reduction for contact problems.
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- Human Mutation, 2016, v. 37, n. 9, p. 644, doi. 10.1002/nme.5135
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- Article
A dynamic mesh strategy applied to the simulation of flapping wings.
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- Human Mutation, 2016, v. 37, n. 9, p. 664, doi. 10.1002/nme.5160
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- Article
A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.
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- Human Mutation, 2016, v. 37, n. 9, p. 835, doi. 10.1002/humu.23017
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- Article
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
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- Human Mutation, 2016, v. 37, n. 9, p. 847, doi. 10.1002/humu.23026
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- Article
TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data.
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- Human Mutation, 2016, v. 37, n. 9, p. 865, doi. 10.1002/humu.23035
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- Article
The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants.
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- Human Mutation, 2016, v. 37, n. 9, p. 877, doi. 10.1002/humu.23023
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- Article
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.
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- Human Mutation, 2016, v. 37, n. 9, p. 884, doi. 10.1002/humu.23021
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- Article
Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni Syndrome.
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- Human Mutation, 2016, v. 37, n. 9, p. 889, doi. 10.1002/humu.23025
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- Article
Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
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- Human Mutation, 2016, v. 37, n. 9, p. 893, doi. 10.1002/humu.23028
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- Article
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
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- Human Mutation, 2016, v. 37, n. 9, p. 898, doi. 10.1002/humu.23033
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- Article
A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers.
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- Human Mutation, 2016, v. 37, n. 9, p. 904, doi. 10.1002/humu.23014
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- Article
Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
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- Human Mutation, 2016, v. 37, n. 9, p. 915, doi. 10.1002/humu.23019
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- Article
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
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- Human Mutation, 2016, v. 37, n. 9, p. 927, doi. 10.1002/humu.23018
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- Article
Human Mitochondrial Cytochrome b Variants Studied in Yeast: Not All Are Silent Polymorphisms.
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- Human Mutation, 2016, v. 37, n. 9, p. 933, doi. 10.1002/humu.23024
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- Article
Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma.
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- Human Mutation, 2016, v. 37, n. 9, p. 943, doi. 10.1002/humu.23027
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- Article
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
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- Human Mutation, 2016, v. 37, n. 9, p. 955, doi. 10.1002/humu.23032
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- Article
A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.
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- Human Mutation, 2016, v. 37, n. 9, p. 964, doi. 10.1002/humu.23034
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- Article
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
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- Human Mutation, 2016, v. 37, n. 9, p. 976, doi. 10.1002/humu.23037
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ERRATUM.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 983
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- Article