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Results 21 - 30 of 56 for gene sequencing
  1. Arrhythmogenic right ventricular cardiomyopathy 
    ... clinical practice in the era of next generation sequencing. J Cardiovasc Med ... A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. ...
    https://medlineplus.gov/...hmogenic-right-ventricular-cardiomyopathy - Genetics
  2. Riboflavin transporter deficiency neuronopathy 
    ... F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  3. Autosomal dominant tubulointerstitial kidney disease-UMOD 
    ... Goldstein DB, Gharavi AG. Diagnostic Utility of Exome Sequencing for Kidney Disease. ... of the UMOD gene are responsible for medullary cystic kidney disease 2 ...
    https://medlineplus.gov/...nt-tubulointerstitial-kidney-disease-umod - Genetics
  4. Alport syndrome 
    ... Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. J ... screening in familial hematuric nephropathies through next generation sequencing. J Am Soc Nephrol. 2014 Dec;25(12): ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  5. Prostate cancer 
    ... pathology of prostate cancer revealed by next-generation sequencing: opportunities for genome-based personalized therapy. Curr Opin ... high-throughput technologies: genome-wide association study and sequencing analysis. Endocr Relat Cancer. 2013 Jun 24;20( ...
    https://medlineplus.gov/genetics/condition/prostate-cancer - Genetics
  6. Autosomal recessive congenital stationary night blindness 
    ... Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive ... Sahel JA, Bhattacharya SS, Audo I. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal- ...
    https://medlineplus.gov/...ive-congenital-stationary-night-blindness - Genetics
  7. Monoamine oxidase A deficiency 
    ... mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. ...
    https://medlineplus.gov/.../condition/monoamine-oxidase-a-deficiency - Genetics
  8. Anauxetic dysplasia 
    ... GR, Duncan EL, Brown MA. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as ...
    https://medlineplus.gov/genetics/condition/anauxetic-dysplasia - Genetics
  9. Nonbullous congenital ichthyosiform erythroderma 
    ... Bouadjar B, Rosler B, Fischer J. Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  10. Koolen-de Vries syndrome 
    ... the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet. 2012 Apr 6;90( ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
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