These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 28593790)

  • 1. Molecular diagnostics for hereditary hearing loss in children.
    Sommen M; Wuyts W; Van Camp G
    Expert Rev Mol Diagn; 2017 Aug; 17(8):751-760. PubMed ID: 28593790
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
    Sheppard S; Biswas S; Li MH; Jayaraman V; Slack I; Romasko EJ; Sasson A; Brunton J; Rajagopalan R; Sarmady M; Abrudan JL; Jairam S; DeChene ET; Ying X; Choi J; Wilkens A; Raible SE; Scarano MI; Santani A; Pennington JW; Luo M; Conlin LK; Devkota B; Dulik MC; Spinner NB; Krantz ID
    Genet Med; 2018 Dec; 20(12):1663-1676. PubMed ID: 29907799
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Next generation sequencing and genetics of hereditary hearing loss in the iranian population: New insights from a systematic review.
    Koohiyan M
    Int J Pediatr Otorhinolaryngol; 2020 Feb; 129():109756. PubMed ID: 31704577
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
    Cabanillas R; Diñeiro M; Cifuentes GA; Castillo D; Pruneda PC; Álvarez R; Sánchez-Durán N; Capín R; Plasencia A; Viejo-Díaz M; García-González N; Hernando I; Llorente JL; Repáraz-Andrade A; Torreira-Banzas C; Rosell J; Govea N; Gómez-Martínez JR; Núñez-Batalla F; Garrote JA; Mazón-Gutiérrez Á; Costales M; Isidoro-García M; García-Berrocal B; Ordóñez GR; Cadiñanos J
    BMC Med Genomics; 2018 Jul; 11(1):58. PubMed ID: 29986705
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole-exome sequencing and its impact in hereditary hearing loss.
    Atik T; Bademci G; Diaz-Horta O; Blanton SH; Tekin M
    Genet Res (Camb); 2015 Mar; 97():e4. PubMed ID: 25825321
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.
    Lenarduzzi S; Morgan A; Faletra F; Cappellani S; Morgutti M; Mezzavilla M; Peruzzi A; Ghiselli S; Ambrosetti U; Graziano C; Seri M; Gasparini P; Girotto G
    Hear Res; 2019 Sep; 381():107769. PubMed ID: 31387071
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic diagnostics of early childhood hearing loss: better testing with next-generation DNA sequencing.
    Sommen M; Van Camp G
    B-ENT; 2013; Suppl 21():51-6. PubMed ID: 24383223
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Application and progress of high-throughput sequencing technologies in the research of hereditary hearing loss.
    Wang CC; Yuan HJ
    Yi Chuan; 2017 Mar; 39(3):208-219. PubMed ID: 28420617
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
    Zhuri D; Sezginer Guler H; Yalcintepe S; Demir S; Atli E; Ikbal Atli E; Gurkan H
    J Int Adv Otol; 2024 Jul; 20(4):312-324. PubMed ID: 39161163
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects.
    Rentas S; Abou Tayoun A
    Expert Rev Mol Diagn; 2021 Feb; 21(2):213-221. PubMed ID: 33554673
    [No Abstract]   [Full Text] [Related]  

  • 11. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.
    Abou Tayoun AN; Krock B; Spinner NB
    Expert Rev Mol Diagn; 2016 Sep; 16(9):987-99. PubMed ID: 27388938
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment.
    Gürtler N; Röthlisberger B; Ludin K; Schlegel C; Lalwani AK
    Otol Neurotol; 2017 Jul; 38(6):900-903. PubMed ID: 28419064
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
    Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
    Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.
    Ryu N; Lee S; Park HJ; Lee B; Kwon TJ; Bok J; Park CI; Lee KY; Baek JI; Kim UK
    Gene; 2017 Sep; 627():233-238. PubMed ID: 28647561
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluating next-generation sequencing for direct clinical diagnostics in diarrhoeal disease.
    Joensen KG; Engsbro ALØ; Lukjancenko O; Kaas RS; Lund O; Westh H; Aarestrup FM
    Eur J Clin Microbiol Infect Dis; 2017 Jul; 36(7):1325-1338. PubMed ID: 28285331
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.
    Butz M; McDonald A; Lundquist PA; Meyer M; Harrington S; Kester S; Stein MI; Mistry NA; Zimmerman Zuckerman E; Niu Z; Schimmenti L; Hasadsri L; Boczek NJ
    J Appl Lab Med; 2020 May; 5(3):467-479. PubMed ID: 32445360
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
    Agarwal AM; Nussenzveig RH; Reading NS; Patel JL; Sangle N; Salama ME; Prchal JT; Perkins SL; Yaish HM; Christensen RD
    Br J Haematol; 2016 Sep; 174(5):806-14. PubMed ID: 27292444
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.
    Sivakumaran TA; Husami A; Kissell D; Zhang W; Keddache M; Black AP; Tinkle BT; Greinwald JH; Zhang K
    Otolaryngol Head Neck Surg; 2013 Jun; 148(6):1007-16. PubMed ID: 23525850
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.
    Sun Y; Yuan J; Wu L; Li M; Cui X; Yan C; Du L; Mao L; Man J; Li W; Kristiansen K; Wu X; Pan W; Yang Y
    Medicine (Baltimore); 2019 Mar; 98(12):e14860. PubMed ID: 30896630
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Application of next generation sequencing in gene identification and genetic diagnosis of hereditary hearing loss].
    Huijun Y; Yu L
    Yi Chuan; 2014 Nov; 36(11):1112-20. PubMed ID: 25567869
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.