Found 4 results
Filters: Keyword is Genotype  [Clear All Filters]
2020
Drutman SB, Mansouri D, Mahdaviani SAlireza, Neehus A-L, Hum D, Bryk R, Hernandez N, Belkaya S, Rapaport F, Bigio B et al..  2020.  Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.. N Engl J Med. 382(5):437-445.
2016
D'Alessandro LCA, Turki SAl, Manickaraj AKumar, Manase D, Mulder BJM, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J et al..  2016.  Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.. Genet Med. 18(2):189-98.
Marin EP, Jozsef L, Di Lorenzo A, Held KF, Luciano AK, Melendez J, Milstone LM, Velazquez H, Sessa WC.  2016.  The Protein Acyl Transferase ZDHHC21 Modulates α1 Adrenergic Receptor Function and Regulates Hemodynamics.. Arterioscler Thromb Vasc Biol. 36(2):370-9.
2008
Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TRJ, McMullin MFrances, Lee FS.  2008.  A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.. N Engl J Med. 358(2):162-8.