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Journal Abstract Search

159 related items for PubMed ID: 32513286

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

  • 22. Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
    Hong S, Wang L, Zhao D, Zhang Y, Chen Y, Tan J, Liang L, Zhu T.
    Mol Genet Genomic Med; 2019 Jun; 7(6):e684. PubMed ID: 30968598
    [Abstract] [Full Text] [Related]

  • 23. Next-Generation Sequencing Applications for Inherited Retinal Diseases.
    Dockery A, Whelan L, Humphries P, Farrar GJ.
    Int J Mol Sci; 2021 May 26; 22(11):. PubMed ID: 34073611
    [Abstract] [Full Text] [Related]

  • 24. Next generation sequencing for disorders of sex development.
    Tobias ES, McElreavey K.
    Endocr Dev; 2014 May 26; 27():53-62. PubMed ID: 25247644
    [Abstract] [Full Text] [Related]

  • 25. [Application of Next-Generation Sequencing in Rare Renal Diseases].
    Cai ZY, Zhao JR.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2022 Jun 26; 44(3):484-490. PubMed ID: 35791948
    [Abstract] [Full Text] [Related]

  • 26. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
    Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C.
    Hum Reprod; 2019 Jun 04; 34(6):978-988. PubMed ID: 31125047
    [Abstract] [Full Text] [Related]

  • 27. Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.
    Maver A, Lohmann K, Borovečki F, Wolstenholme N, Taylor RL, Spielmann M, Haack TB, Gerberding M, Peterlin B, Graessner H.
    Eur J Hum Genet; 2024 Aug 04; 32(8):1014-1021. PubMed ID: 38839988
    [Abstract] [Full Text] [Related]

  • 28. Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action 'DSDnet' and European Reference Network on Rare Endocrine Conditions.
    Johannsen TH, Andersson AM, Ahmed SF, de Rijke YB, Greaves RF, Hartmann MF, Hiort O, Holterhus PM, Krone NP, Kulle A, Ljubicic ML, Mastorakos G, McNeilly J, Pereira AM, Saba A, Wudy SA, Main KM, Juul A.
    Eur J Endocrinol; 2020 Jun 04; 182(6):P1-P15. PubMed ID: 32268295
    [Abstract] [Full Text] [Related]

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  • 31. Educational and knowledge gaps within the European reference network on rare endocrine conditions.
    Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, Bratina N, Tillmann V, Hiort O, Pereira AM.
    Endocr Connect; 2021 Jan 04; 10(1):37-44. PubMed ID: 33289690
    [Abstract] [Full Text] [Related]

  • 32. Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.
    Herbst SM, Schirmer S, Posovszky C, Jochum F, Rödl T, Schroeder JA, Barth TF, Hehr U, Melter M, Vermehren J.
    Mol Cell Probes; 2015 Oct 04; 29(5):291-8. PubMed ID: 25771912
    [Abstract] [Full Text] [Related]

  • 33. A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
    Pépin L, Colin E, Tessarech M, Rouleau S, Bouhours-Nouet N, Bonneau D, Coutant R.
    J Clin Endocrinol Metab; 2019 Apr 01; 104(4):985-993. PubMed ID: 30383237
    [Abstract] [Full Text] [Related]

  • 34. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
    Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA.
    CMAJ; 2016 Aug 09; 188(11):E254-E260. PubMed ID: 27241786
    [Abstract] [Full Text] [Related]

  • 35. Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research.
    de Graaf JP, de Vries F, Dirkson A, Hiort O, Pereira AM, Korbonits M, Cools M, Research and Science Work Package of Endo-ERN.
    Endocrine; 2021 Mar 09; 71(3):561-568. PubMed ID: 33534110
    [Abstract] [Full Text] [Related]

  • 36. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R, Daiger SP.
    Mol Vis; 2017 Mar 09; 23():470-481. PubMed ID: 28761320
    [Abstract] [Full Text] [Related]

  • 37. Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.
    Vasli N, Laporte J.
    Acta Neuropathol; 2013 Feb 09; 125(2):173-85. PubMed ID: 23224362
    [Abstract] [Full Text] [Related]

  • 38. CPMS-improving patient care in Europe via virtual case discussions.
    Mönig I, Steenvoorden D, de Graaf JP, Ahmed SF, Taruscio D, Beun JG, Johannsen TH, Juul A, Hiort O, Pereira AM.
    Endocrine; 2021 Mar 09; 71(3):549-554. PubMed ID: 33528763
    [Abstract] [Full Text] [Related]

  • 39. Insights from exome sequencing for endocrine disorders.
    de Bruin C, Dauber A.
    Nat Rev Endocrinol; 2015 Aug 09; 11(8):455-64. PubMed ID: 25963271
    [Abstract] [Full Text] [Related]

  • 40. [Genetic testing in the fetus and child].
    Bartholdi D, Miny P.
    Ther Umsch; 2013 Nov 09; 70(11):621-31. PubMed ID: 24168795
    [Abstract] [Full Text] [Related]

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