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Journal Abstract Search

108 related items for PubMed ID: 31254405

  • 1. Clinical genetic testing in endocrinology: Current concepts and contemporary challenges.
    Newey PJ.
    Clin Endocrinol (Oxf); 2019 Nov; 91(5):587-607. PubMed ID: 31254405
    [Abstract] [Full Text] [Related]

  • 2. A practical guide to genetic testing in endocrinology.
    Izatt L, Owens MM, Pierce H, Wilcox S, Park SM.
    Clin Endocrinol (Oxf); 2022 Oct; 97(4):388-399. PubMed ID: 34528717
    [Abstract] [Full Text] [Related]

  • 3. Molecular genetic testing in endocrinology - a practical guide.
    Kirmani S.
    Endocr Pract; 2012 Oct; 18(1):85-9. PubMed ID: 22336444
    [Abstract] [Full Text] [Related]

  • 4. Search for Novel Mutational Targets in Human Endocrine Diseases.
    Park SY, Seo MH, Lee S.
    Endocrinol Metab (Seoul); 2019 Mar; 34(1):23-28. PubMed ID: 30912335
    [Abstract] [Full Text] [Related]

  • 5. Next generation sequencing in endocrine practice.
    Forlenza GP, Calhoun A, Beckman KB, Halvorsen T, Hamdoun E, Zierhut H, Sarafoglou K, Polgreen LE, Miller BS, Nathan B, Petryk A.
    Mol Genet Metab; 2015 Mar; 115(2-3):61-71. PubMed ID: 25958132
    [Abstract] [Full Text] [Related]

  • 6. Applications of molecular biology and genetics in endocrinology.
    Kopp P.
    Endocr Pract; 2007 Sep; 13(5):534-41. PubMed ID: 17872356
    [Abstract] [Full Text] [Related]

  • 7. Next generation sequencing for disorders of sex development.
    Tobias ES, McElreavey K.
    Endocr Dev; 2014 Sep; 27():53-62. PubMed ID: 25247644
    [Abstract] [Full Text] [Related]

  • 8. NGS-Based genetic testing for heritable cardiovascular diseases. Specific requirements for obtaining informed consent.
    Schmidtke J, Wittkowski K, Glaubitz R.
    Mol Cell Probes; 2019 Jun; 45():70-78. PubMed ID: 31059777
    [Abstract] [Full Text] [Related]

  • 9. Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines.
    Marcus RK, Geurts JL, Grzybowski JA, Turaga KK, Clark Gamblin T, Strong KA, Johnston FM.
    Fam Cancer; 2015 Dec; 14(4):641-9. PubMed ID: 26108897
    [Abstract] [Full Text] [Related]

  • 10. Next generation sequencing in hematolymphoid neoplasia.
    Kuo FC.
    Semin Hematol; 2019 Jan; 56(1):2-6. PubMed ID: 30573040
    [Abstract] [Full Text] [Related]

  • 11. [Molecular tests for (early) recognition of endocrine disorders - towards a sophisticated management of complex endocrine and metabolic diseases].
    Kopp P.
    Ther Umsch; 2010 Jul; 67(7):367-73. PubMed ID: 20577965
    [Abstract] [Full Text] [Related]

  • 12. Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
    Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O, European Reference Network on Rare Endocrine Conditions (ENDO-ERN.
    Orphanet J Rare Dis; 2020 Jun 08; 15(1):144. PubMed ID: 32513286
    [Abstract] [Full Text] [Related]

  • 13. Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes.
    Butz H, Blair J, Patócs A.
    Endocrine; 2021 Mar 08; 71(3):641-652. PubMed ID: 33570725
    [Abstract] [Full Text] [Related]

  • 14. GENETICS IN ENDOCRINOLOGY: Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks.
    Persani L, de Filippis T, Colombo C, Gentilini D.
    Eur J Endocrinol; 2018 Sep 08; 179(3):R111-R123. PubMed ID: 29880707
    [Abstract] [Full Text] [Related]

  • 15. Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.
    Schuler BA, Nelson ET, Koziura M, Cogan JD, Hamid R, Phillips JA.
    J Clin Invest; 2022 Apr 01; 132(7):. PubMed ID: 35362483
    [Abstract] [Full Text] [Related]

  • 16. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
    Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV.
    Arch Pathol Lab Med; 2015 Apr 01; 139(4):481-93. PubMed ID: 25152313
    [Abstract] [Full Text] [Related]

  • 17. Genetic Testing in Endocrinology.
    De Sousa SM, Hardy TS, Scott HS, Torpy DJ.
    Clin Biochem Rev; 2018 Feb 01; 39(1):17-28. PubMed ID: 30072819
    [Abstract] [Full Text] [Related]

  • 18. Evaluation of copy number variant detection from panel-based next-generation sequencing data.
    Yao R, Yu T, Qing Y, Wang J, Shen Y.
    Mol Genet Genomic Med; 2019 Jan 01; 7(1):e00513. PubMed ID: 30565893
    [Abstract] [Full Text] [Related]

  • 19. A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children.
    Beale S, Sanderson D, Sanniti A, Dundar Y, Boland A.
    Health Technol Assess; 2015 Jun 01; 19(46):1-90. PubMed ID: 26132578
    [Abstract] [Full Text] [Related]

  • 20. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.
    Tamminga S, van Maarle M, Henneman L, Oudejans CB, Cornel MC, Sistermans EA.
    Adv Clin Chem; 2016 Jun 01; 74():63-102. PubMed ID: 27117661
    [Abstract] [Full Text] [Related]

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