Whole Genome Sequencing in Primary Care [NEW TOPIC PAGE]

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From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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• Genomic profile of a patient with triple negative essential thrombocythemia, unresponsive to therapy: A case report and literature review.  
  Journal of advanced research 2017 Jul 8 (4): 375-378.
  Zaidi Uzma, Shahid Saba, Fatima Naveen, Ahmed Shariq, Sufaida Gul, Nadeem Muhammad, Shamsi Tah
• The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.  
  JIMD reports 2017 Jul .
  Vals Mari-Anne, Pajusalu Sander, Kals Mart, Mägi Reedik, Õunap Katr
• EIF1AX and NRAS mutations co-occur and cooperate in low-grade serous ovarian carcinomas.  
  Cancer research 2017 Jun .
  Etemadmoghadam Dariush, Azar Walid J, Lei Ying, Moujaber Tania, Garsed Dale W, Kennedy Catherine, Fereday Sian, Mitchell Chris, Chiew Yoke-Eng, Hendley Joy, Group Australian Ovarian Cancer Study, Sharma Raghwa, Harnett Paul, Li Jason, Christie Elizabeth L, Patch Ann-Marie, George Joshy, Au-Yeung George, Mir Arnau Gisela, Holloway Timothy P, Semple Timothy, Pearson John V, Waddell Nicola, Grimmond Sean, Köbel Martin, Rizos Helen, Lomakin Ivan, Bowtell David D L, DeFazio An
• Impact of mutations in Toll-like receptor pathway genes on esophageal carcinogenesis.  
  PLoS genetics 2017 May 13 (5): e1006808.
  Fels Elliott Daffolyn Rachael, Perner Juliane, Li Xiaodun, Symmons Martyn F, Verstak Brett, Eldridge Matthew, Bower Lawrence, O'Donovan Maria, Gay Nick J, , Fitzgerald Rebecca
• Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome.  
  The Journal of clinical endocrinology and metabolism 2017 May .
  Gorsic Lidija K, Kosova Gulum, Werstein Brian, Sisk Ryan, Legro Richard S, Hayes M Geoffrey, Teixeira Jose M, Dunaif Andrea, Urbanek Margr

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