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Inferring compound heterozygosity from large-scale exome sequencing data

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Prediction and stratification of longitudinal risk for chronic obstructive...

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Spatial architectures of somatic mutations in normal prostate, benign...

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CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with...

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Associations between low serum levels of ANRIL and some common gene SNPs in...

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Whole genome sequencing enables new genetic diagnosis for inherited retinal...

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Exploratory study of cold hypersensitivity in Japanese women: genetic...

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Nuclear and mitochondrial genetic variants associated with mitochondrial DNA...

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Towards solving the genetic diagnosis odyssey in Iranian patients with...

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Multiomic analysis implicates nuclear hormone receptor signalling in...

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Next generation phenotyping for diagnosis and phenotype–genotype correlations...

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Selection on synonymous sites: the unwanted transcript hypothesis

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Effects of nonalcoholic fatty liver disease on sarcopenia: evidence from...

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Brain tissue- and cell type-specific eQTL Mendelian randomization reveals...

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Relative synonymous codon usage and codon pair analysis of depression...

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A cohort study of neurodevelopmental disorders and/or congenital anomalies...

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Pleiotropic contribution of rbfox1 to psychiatric and neurodevelopmental...

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Attention-deficit/hyperactivity disorder

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Digenic inheritance involving a muscle-specific protein kinase and the giant...

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A humanized mouse model for adeno-associated viral gene therapy

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Assessment of parental mosaicism rates in neurodevelopmental disorders caused...

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Rethinking non-syndromic hearing loss and its mimics in the genomic era

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Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1...

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Bone scan findings of Paget’s disease of bone in patients with VCP...

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Sequence composition changes in short tandem repeats: heterogeneity,...

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A second hotspot for pathogenic exon-skipping variants in CDC45

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Systematic reanalysis of genomic data by diagnostic laboratories: a scoping...

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Genomes in clinical care

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The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and...

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Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting...

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