Found: 17
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TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
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- Human Mutation, 2016, v. 37, n. 11, p. 1144, doi. 10.1002/humu.23054
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- Article
Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.
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- Human Mutation, 2016, v. 37, n. 11, p. 1180, doi. 10.1002/humu.23055
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- Article
Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis.
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- Human Mutation, 2016, v. 37, n. 11, p. 1149, doi. 10.1002/humu.23053
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Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants.
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- Human Mutation, 2016, v. 37, n. 11, p. 1137, doi. 10.1002/humu.23049
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- Article
New Directions in Gaucher Disease.
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- Human Mutation, 2016, v. 37, n. 11, p. 1121, doi. 10.1002/humu.23056
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Cover Image, Volume 37, Issue 11.
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- Human Mutation, 2016, v. 37, n. 11, p. i, doi. 10.1002/humu.23133
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Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
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- Human Mutation, 2016, v. 37, n. 11, p. 1162, doi. 10.1002/humu.23052
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Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
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- Human Mutation, 2016, v. 37, n. 11, p. 1190, doi. 10.1002/humu.23057
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Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.
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- Human Mutation, 2016, v. 37, n. 11, p. 1153, doi. 10.1002/humu.23061
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Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.
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- Human Mutation, 2016, v. 37, n. 11, p. 1202, doi. 10.1002/humu.23062
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Base-Biased Evolution of Disease-Associated Mutations in the Human Genome.
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- Human Mutation, 2016, v. 37, n. 11, p. 1209, doi. 10.1002/humu.23065
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Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
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- Human Mutation, 2016, v. 37, n. 11, p. 1157, doi. 10.1002/humu.23060
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- Article
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
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- Human Mutation, 2016, v. 37, n. 11, p. 1231, doi. 10.1002/humu.23072
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Functional SNP in 3′-UTR MicroRNA-Binding Site of ZNF350 Confers Risk for Age-Related Cataract.
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- Human Mutation, 2016, v. 37, n. 11, p. 1223, doi. 10.1002/humu.23073
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The Importance of Assessment of Function in the Era of In Silico Analysis.
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- Human Mutation, 2016, v. 37, n. 11, p. 1119, doi. 10.1002/humu.23126
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- Article
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
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- Human Mutation, 2016, v. 37, n. 11, p. 1215, doi. 10.1002/humu.23067
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- Article
Issue Information.
- Published in:
- Human Mutation, 2016, v. 37, n. 11, p. 1115, doi. 10.1002/humu.23127
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- Article