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Results 1 - 10 of 56 for gene sequencing
  1. Hereditary neuralgic amyotrophy 
    ... SH, Andermann E, Bird TD, Chance PF. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. ...
    https://medlineplus.gov/.../hereditary-neuralgic-amyotrophy - Genetics
  2. Alternating hemiplegia of childhood 
    ... with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Sep;11(9): ...
    https://medlineplus.gov/.../alternating-hemiplegia-of-childhood - Genetics
  3. X-linked infantile nystagmus 
    ... and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing. Eur J Hum Genet. 2017 Jun;25(6): ...
    https://medlineplus.gov/.../condition/x-linked-infantile-nystagmus - Genetics
  4. Intestinal pseudo-obstruction 
    ... of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. J Pediatr Gastroenterol Nutr. 2017 Oct;65(4): ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  5. Breast cancer 
    ... for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015 Jan 1;121(1):25- ...
    https://medlineplus.gov/genetics/condition/breast-cancer - Genetics
  6. Type 2 diabetes 
    ... Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium; Mahajan A, Go MJ, Zhang W, Below ...
    https://medlineplus.gov/genetics/condition/type-2-diabetes - Genetics
  7. Combined malonic and methylmalonic aciduria 
    ... Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
  8. Usher syndrome 
    ... Weissenbach J, Petit C, Denoyelle F. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis. ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  9. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... Mohammed S, Donnai D, Black G. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  10. Gray platelet syndrome 
    ... A, Rendon A, Nurden P, Ouwehand WH. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet. 2011 Jul ...
    https://medlineplus.gov/genetics/condition/gray-platelet-syndrome - Genetics
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