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Clin Genet. 2014 Jul 21. [Epub ahead of print]
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
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Clin Chim Acta. 2014 Jul 18. [Epub ahead of print]
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Muscle Nerve. 2014 Jul 21. [Epub ahead of print]
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Clin Genet. 2014 Jul 21. [Epub ahead of print]
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Clin Genet. 2014 Jul 21. [Epub ahead of print]
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
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Cancer Cytopathol. 2014 Jul 15. [Epub ahead of print]
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Hum Mutat. 2014 Jul 18. [Epub ahead of print]
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Hum Mutat. 2014 Jul 18. [Epub ahead of print]
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Ultrasound Obstet Gynecol. 2014 Jul 10. [Epub ahead of print]
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Prenat Diagn. 2014 Jul 9. [Epub ahead of print]
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes.
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Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.
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Nat Genet. 2014 Jul 20. [Epub ahead of print]
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J Med Ethics. 2014 Jul 18. [Epub ahead of print]
Whole-genome sequencing reveals clonal expansion of multiresistant Staphylococcus haemolyticus in European hospitals.
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J Antimicrob Chemother. 2014 Jul 17. [Epub ahead of print]
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.
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J Clin Microbiol. 2014 Aug;52(8):3136.
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Genet Med. 2014 Jul 17. [Epub ahead of print]
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PLOS One. 2014 Jul 17;9(7):e101670.
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Exp Hematol Oncol. 2014 Jul 11;3:18.
New lung cancer panel for high-throughput targeted resequencing.
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Genomics Inform. 2014 Jun;12(2):50-7.
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Cutaneous carcinosarcoma: further insights into its mutational landscape through massive parallel genome sequencing.
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SigFuge: single gene clustering of RNA-seq reveals differential isoform usage among cancer samples.
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Exome sequencing of multiple affected individuals from an Irish family with Brugada Syndrome uncovers a novel locus for the disorder.
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Whole genome and transcriptome approach in a polygenic model for cardiac hypertrophy identifies Trim55 as a new candidate gene in quantitative trait locus cardiac mass 22.
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Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
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