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Results 41 - 50 of 56 for gene sequencing
  1. Familial thoracic aortic aneurysm and dissection 
    ... Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Recurrent gain-of- ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  2. Swyer syndrome 
    ... A, Nelson SF, Delot E, Vilain E. Exome sequencing for the diagnosis of 46,XY disorders of ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  3. MEGDEL syndrome 
    ... J, Briones P, Elpeleg O, Ribes A. Exome sequencing identifies a new mutation in SERAC1 in a ... de Brouwer AP. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  4. Melorheostosis 
    ... Tine BA, Griffith OL, Mardis ER. Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of ...
    https://medlineplus.gov/genetics/condition/melorheostosis - Genetics
  5. Ochoa syndrome 
    ... D, Innis JW. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi ...
    https://medlineplus.gov/genetics/condition/ochoa-syndrome - Genetics
  6. Hereditary myopathy with early respiratory failure 
    ... N, Farrero E, Sambuughin N, Goldfarb LG. Exome sequencing identifies titin mutations causing hereditary myopathy with early ...
    https://medlineplus.gov/...y-myopathy-with-early-respiratory-failure - Genetics
  7. PURA syndrome 
    ... Magee AC, Turnpenny PD, Baralle D. Whole exome sequencing in family trios reveals de novo mutations in ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  8. DOORS syndrome 
    ... The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44- ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  9. Alpha-methylacyl-CoA racemase deficiency 
    ... alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis. 2013 Jan 3;8: ...
    https://medlineplus.gov/.../alpha-methylacyl-coa-racemase-deficiency - Genetics
  10. ALG12-congenital disorder of glycosylation 
    ... Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
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