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Semin Cancer Biol. 2014 Apr 16. [Epub ahead of print]
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
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Nat Genet. 2014 Apr 20. [Epub ahead of print]
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Nat Genet. 2014 Apr 20. [Epub ahead of print]
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Nat Genet. 2014 Apr 20. [Epub ahead of print]
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Nat Genet. 2014 Apr 20. [Epub ahead of print]
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Am J Hum Genet. 2014 Apr 16. [Epub ahead of print]
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Cell Rep. 2014 Apr 16. [Epub ahead of print]
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J Allergy Clin Immunol. 2014 Apr 17. [Epub ahead of print]
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Mod Pathol. 2014 Apr 18. [Epub ahead of print]
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.
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Eur J Paediatr Neurol. 2014 Apr 8. [Epub ahead of print]
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Pediatr Neurol. 2014 Feb 10. [Epub ahead of print]
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EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
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Exome sequencing in single cells from the cerebrospinal fluid in multiple sclerosis.
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Clin Chem. 2014 Apr 16. [Epub ahead of print]
Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.
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Bioinformatics. 2014 Apr 16. [Epub ahead of print]
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
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J Hum Genet. 2014 Apr 17. [Epub ahead of print]
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
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J Med Genet. 2014 Apr 15. [Epub ahead of print]
Genomic profiling of hepatocellular adenomas reveals recurrent FRK-activating mutations and the mechanisms of malignant transformation.
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Identification of mRNAs and lincRNAs associated with lung cancer progression using next-generation RNA sequencing from laser micro-dissected archival FFPE tissue specimens.
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Lung Cancer. 2014 Mar 29. [Epub ahead of print]
A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing.
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Biochem Biophys Res Commun. 2014 Apr 12. [Epub ahead of print]
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J Clin Oncol. 2014 Apr 14. [Epub ahead of print]
An international multicenter study on HIV-1 drug resistance testing by 454 ultra-deep pyrosequencing.
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J Virol Methods. 2014 Apr 11. [Epub ahead of print]