Molecular genetics of long-QT syndrome.
Wattanasirichaigoon, and AH Beggs. 1998. “Molecular Genetics of Long-QT Syndrome.”. Curr Opin Pediatr 10 (6): 628-34.
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51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands.
Wallgren-Pettersson, AH Beggs, and Laing. 1998. “51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands.”. Neuromuscul Disord 8 (1): 53-6.
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin.
Arikawa-Hirasawa, Koga, Tsukahara, Nonaka, Mitsudome, Goto, AH Beggs, and Arahata. 1995. “A Severe Muscular Dystrophy Patient With an Internally Deleted Very Short (110 KD) Dystrophin: Presence of the Binding Site for Dystrophin-Associated Glycoprotein (DAG) May Not Be Enough for Physiological Function of Dystrophin.”. Neuromuscul Disord 5 (5): 429-38.
ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies.
Byers, Neumann, AH Beggs, and Kunkel. 1992. “ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies.”. Neurology 42 (3 Pt 1): 570-6.
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
Beggs, AH, Koenig, Boyce, and Kunkel. 1990. “Detection of 98% of DMD/BMD Gene Deletions by Polymerase Chain Reaction.”. Hum Genet 86 (1): 45-8.
Enormous dystrophin in a patient with Becker muscular dystrophy.
Angelini, AH Beggs, Hoffman, Fanin, and Kunkel. 1990. “Enormous Dystrophin in a Patient With Becker Muscular Dystrophy.”. Neurology 40 (5): 808-12.
Improved diagnosis of Duchenne/Becker muscular dystrophy.
Beggs, AH, and Kunkel. 1990. “Improved Diagnosis of Duchenne/Becker Muscular Dystrophy.”. J Clin Invest 85 (3): 613-9.
Cross-reactive protein in Duchenne muscle.
Hoffman, AH Beggs, Koenig, Kunkel, and Angelini. 1989. “Cross-Reactive Protein in Duchenne Muscle.”. Lancet 2 (8673): 1211-2.
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.
Kunkel, AH Beggs, and Hoffman. 1989. “Molecular Genetics of Duchenne and Becker Muscular Dystrophy: Emphasis on Improved Diagnosis.”. Clin Chem 35 (7 Suppl): B21-4.
Scalable Collaborative Infrastructure for a Learning Healthcare System (SCILHS): Architecture
Mandl, Kohane, McFadden, Weber, Natter, Mandel, Schneeweiss, et al. 2014. “Scalable Collaborative Infrastructure for a Learning Healthcare System (SCILHS): Architecture”. J Am Med Inform Assoc.