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Channel: Medical genetics : nature.com subject feeds
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Showing 30 articles in the latest snapshot of channel 78377267
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Title: Medical genetics : nature.com subject feeds
Channel Number: 78377267
Language: English
Registered On: February 3, 2024, 2:52 pm
Number of Articles: 47
Latest Snapshot: March 15, 2024, 8:32 pm
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Inferring compound heterozygosity from large-scale exome sequencing data
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December 5, 2023, 4:00 pm
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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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January 19, 2024, 4:00 pm
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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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