Found: 20
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An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
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- Human Mutation, 2017, v. 38, n. 5, p. 548, doi. 10.1002/humu.23190
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- Article
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
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- Human Mutation, 2017, v. 38, n. 5, p. 524, doi. 10.1002/humu.23181
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- Article
Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series.
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- Human Mutation, 2017, v. 38, n. 5, p. 532, doi. 10.1002/humu.23182
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- Article
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
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- Human Mutation, 2017, v. 38, n. 5, p. 540, doi. 10.1002/humu.23186
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- Article
Mutations in the Human Argininosuccinate Synthetase ( ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
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- Human Mutation, 2017, v. 38, n. 5, p. 471, doi. 10.1002/humu.23184
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- Article
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
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- Human Mutation, 2017, v. 38, n. 5, p. 556, doi. 10.1002/humu.23189
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- Article
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
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- Human Mutation, 2017, v. 38, n. 5, p. 600, doi. 10.1002/humu.23183
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- Article
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
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- Human Mutation, 2017, v. 38, n. 5, p. 517, doi. 10.1002/humu.23203
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- Article
Cover Image, Volume 38, Issue 5.
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- Human Mutation, 2017, v. 38, n. 5, p. i, doi. 10.1002/humu.23228
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- Article
TarSeqQC: Quality control on targeted sequencing experiments in R.
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- Human Mutation, 2017, v. 38, n. 5, p. 494, doi. 10.1002/humu.23204
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- Article
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
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- Human Mutation, 2017, v. 38, n. 5, p. 507, doi. 10.1002/humu.23188
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- Article
Issue Information.
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- Human Mutation, 2017, v. 38, n. 5, p. 465, doi. 10.1002/humu.23088
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- Article
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
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- Human Mutation, 2017, v. 38, n. 5, p. 594, doi. 10.1002/humu.23176
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- Article
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
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- Human Mutation, 2017, v. 38, n. 5, p. 581, doi. 10.1002/humu.23206
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- Article
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.
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- Human Mutation, 2017, v. 38, n. 5, p. 503, doi. 10.1002/humu.23178
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- Article
Once doesn't count: Phenotype-driven gene hunting in cohorts.
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- Human Mutation, 2017, v. 38, n. 5, p. 469, doi. 10.1002/humu.23209
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- Article
Annotation of functional impact of voltage-gated sodium channel mutations.
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- Human Mutation, 2017, v. 38, n. 5, p. 485, doi. 10.1002/humu.23191
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- Article
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.
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- Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
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- Article
Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling.
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- Human Mutation, 2017, v. 38, n. 5, p. 569, doi. 10.1002/humu.23193
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- Article
Bad blood contaminating germline databases?
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- Human Mutation, 2017, v. 38, n. 5, p. 469, doi. 10.1002/humu.23217
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- Article