Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study.
Molecules (Basel, Switzerland)
Nimer, Refat M RM; Sumaily, Khalid M KM; Almuslat, Arwa A; Abdel Jabar, Mai M; Sabi, Essa M EM; Al-Muhaizea, Mohammad A MA; Abdel Rahman, Anas M AM
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
American Journal Of Human Genetics
Gonorazky, Hernan D HD; Naumenko, Sergey S; Ramani, Arun K AK; Nelakuditi, Viswateja V; Mashouri, Pouria P; Wang, Peiqui P; Kao, Dennis D; Ohri, Krish K; Viththiyapaskaran, Senthuri S; Tarnopolsky, Mark A MA; Mathews, Katherine D KD; Moore, Steven A SA; Osorio, Andres N AN; Villanova, David D; Kemaladewi, Dwi U DU; Cohn, Ronald D RD; Brudno, Michael M; Dowling, James J JJ