Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 1
Results: 24
Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases.
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- Human Mutation, 2014, v. 35, n. 1, p. 147, doi. 10.1002/humu.22458
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Mutations and Polymorphisms in the Human Argininosuccinate Lyase ( ASL) Gene.
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- Human Mutation, 2014, v. 35, n. 1, p. 27, doi. 10.1002/humu.22469
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Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar.
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- Human Mutation, 2014, v. 35, n. 1, p. 105, doi. 10.1002/humu.22460
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When to WES in the Pediatric Disease Clinic? Now!
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- Human Mutation, 2014, v. 35, n. 1, p. v, doi. 10.1002/humu.22402
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Targeted Deep Resequencing Identifies MID2 Mutation for X-Linked Intellectual Disability with Varied Disease Severity in a Large Kindred from India.
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- Human Mutation, 2014, v. 35, n. 1, p. 41, doi. 10.1002/humu.22453
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The Mismatch Repair Protein MSH2 is Rate Limiting for Repeat Expansion in a Fragile X Premutation Mouse Model.
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- Human Mutation, 2014, v. 35, n. 1, p. 129, doi. 10.1002/humu.22464
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Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases.
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- Human Mutation, 2014, v. 35, n. 1, p. 15, doi. 10.1002/humu.22448
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Genetic and Functional Analyses of ZIC3 Variants in Congenital Heart Disease.
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- Human Mutation, 2014, v. 35, n. 1, p. 66, doi. 10.1002/humu.22457
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Mitochondrial DNA Rearrangements in Health and Disease-A Comprehensive Study.
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- Human Mutation, 2014, v. 35, n. 1, p. 1, doi. 10.1002/humu.22452
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Contents.
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- Human Mutation, 2014, v. 35, n. 1, p. i, doi. 10.1002/humu.22492
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- Article
High Frequency Strand Slippage Mutations in CTCF in MSI-Positive Endometrial Cancers.
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- Human Mutation, 2014, v. 35, n. 1, p. 63, doi. 10.1002/humu.22463
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Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.
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- Human Mutation, 2014, v. 35, n. 1, p. 149, doi. 10.1002/humu.22466
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A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.
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- Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470
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Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants.
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- Human Mutation, 2014, v. 35, n. 1, p. 53, doi. 10.1002/humu.22456
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Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-Causing POLH Mutations.
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- Human Mutation, 2014, v. 35, n. 1, p. 117, doi. 10.1002/humu.22462
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The ETFDH c.158 A> G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl- Co A Dehydrogenation Deficiency.
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- Human Mutation, 2014, v. 35, n. 1, p. 86, doi. 10.1002/humu.22455
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Ciliary Genes TBC1 D32/ C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX.
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- Human Mutation, 2014, v. 35, n. 1, p. 36, doi. 10.1002/humu.22477
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Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
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- Human Mutation, 2014, v. 35, n. 1, p. 150, doi. 10.1002/humu.22467
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Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.
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- Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451
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An NTD-Associated Polymorphism in the 3′ UTR of MTHFD1 L can Affect Disease Risk by Altering mi RNA Binding.
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- Human Mutation, 2014, v. 35, n. 1, p. 96, doi. 10.1002/humu.22459
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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.
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- Human Mutation, 2014, v. 35, n. 1, p. 76, doi. 10.1002/humu.22461
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A Role for MSH2 in the CGG Repeat Expansion.
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- Human Mutation, 2014, v. 35, n. 1, p. v, doi. 10.1002/humu.22403
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GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X.
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- Human Mutation, 2014, v. 35, n. 1, p. 50, doi. 10.1002/humu.22454
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Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes.
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- Human Mutation, 2014, v. 35, n. 1, p. 58, doi. 10.1002/humu.22465
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