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144 related items for PubMed ID: 32513286

  • 1. 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]

  • 2. Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
    Neocleous V, Fanis P, Toumba M, Skordis N, Phylactou LA.
    Orphanet J Rare Dis; 2024 Apr 18; 19(1):167. PubMed ID: 38637882
    [Abstract] [Full Text] [Related]

  • 3. A practical guide to genetic testing in endocrinology.
    Izatt L, Owens MM, Pierce H, Wilcox S, Park SM.
    Clin Endocrinol (Oxf); 2022 Oct 18; 97(4):388-399. PubMed ID: 34528717
    [Abstract] [Full Text] [Related]

  • 4. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
    Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H, ERN-EYE study group.
    Orphanet J Rare Dis; 2021 Mar 20; 16(1):142. PubMed ID: 33743793
    [Abstract] [Full Text] [Related]

  • 5. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
    Bever YV, Brüggenwirth HT, Wolffenbuttel KP, Dessens AB, Groenenberg IAL, Knapen MFCM, De Baere E, Cools M, van Ravenswaaij-Arts CMA, Sikkema-Raddatz B, Claahsen-van der Grinten H, Kempers M, Rinne T, Hersmus R, Looijenga L, Hannema SE.
    J Med Genet; 2020 Sep 20; 57(9):581-589. PubMed ID: 32303604
    [Abstract] [Full Text] [Related]

  • 6. Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease.
    Reincke M, Hokken-Koelega A.
    Endocrine; 2021 Mar 20; 71(3):539-541. PubMed ID: 33740222
    [Abstract] [Full Text] [Related]

  • 7. Search for Novel Mutational Targets in Human Endocrine Diseases.
    Park SY, Seo MH, Lee S.
    Endocrinol Metab (Seoul); 2019 Mar 20; 34(1):23-28. PubMed ID: 30912335
    [Abstract] [Full Text] [Related]

  • 8. Clinical genetic testing in endocrinology: Current concepts and contemporary challenges.
    Newey PJ.
    Clin Endocrinol (Oxf); 2019 Nov 20; 91(5):587-607. PubMed ID: 31254405
    [Abstract] [Full Text] [Related]

  • 9. The current landscape of European registries for rare endocrine conditions.
    Ali SR, Bryce J, Cools M, Korbonits M, Beun JG, Taruscio D, Danne T, Dattani M, Dekkers OM, Linglart A, Netchine I, Nordenstrom A, Patocs A, Persani L, Reisch N, Smyth A, Sumnik Z, Visser WE, Hiort O, Pereira AM, Ahmed SF.
    Eur J Endocrinol; 2019 Jan 01; 180(1):89-98. PubMed ID: 30407922
    [Abstract] [Full Text] [Related]

  • 10. 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 Jan 01; 115(2-3):61-71. PubMed ID: 25958132
    [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 01; 67(7):367-73. PubMed ID: 20577965
    [Abstract] [Full Text] [Related]

  • 12. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
    Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R.
    Endocr Connect; 2022 Dec 01; 11(12):. PubMed ID: 36228316
    [Abstract] [Full Text] [Related]

  • 13. Clinical validation of targeted next-generation sequencing for inherited disorders.
    Yohe S, Hauge A, Bunjer K, Kemmer T, Bower M, Schomaker M, Onsongo G, Wilson J, Erdmann J, Zhou Y, Deshpande A, Spears MD, Beckman K, Silverstein KA, Thyagarajan B.
    Arch Pathol Lab Med; 2015 Feb 01; 139(2):204-10. PubMed ID: 25611102
    [Abstract] [Full Text] [Related]

  • 14. Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.
    Neuheuser L, Meyer R, Begemann M, Elbracht M, Eggermann T.
    Mol Cell Probes; 2019 Apr 01; 44():1-7. PubMed ID: 30610903
    [Abstract] [Full Text] [Related]

  • 15. Next-generation sequencing applied to rare diseases genomics.
    Danielsson K, Mun LJ, Lordemann A, Mao J, Lin CH.
    Expert Rev Mol Diagn; 2014 May 01; 14(4):469-87. PubMed ID: 24702023
    [Abstract] [Full Text] [Related]

  • 16. Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
    Yeager S, Mehta S, Sodhi M, Shah B.
    J Pediatr Endocrinol Metab; 2019 Dec 18; 32(12):1305-1310. PubMed ID: 31490775
    [Abstract] [Full Text] [Related]

  • 17. The Importance of Family History in the Management of Endocrine Disease.
    Grogan RH.
    Surg Clin North Am; 2019 Aug 18; 99(4):711-720. PubMed ID: 31255201
    [Abstract] [Full Text] [Related]

  • 18. [Genetic diagnostics for cardiomyopathies].
    Czepluch F, Wollnik B, Hasenfuß G.
    Dtsch Med Wochenschr; 2017 May 18; 142(9):657-664. PubMed ID: 28454199
    [Abstract] [Full Text] [Related]

  • 19. Introduction to Endo-ERN-scope and mission.
    Pereira AM, Hiort O.
    Endocrine; 2021 Mar 18; 71(3):537-538. PubMed ID: 33449294
    [Abstract] [Full Text] [Related]

  • 20. [Genetic testing and gene-based testing for endocrine disorders].
    Yanase T, Nawata H.
    Nihon Rinsho; 2005 Dec 18; 63 Suppl 12():207-11. PubMed ID: 16416795
    [No Abstract] [Full Text] [Related]

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