2015 Year Book of Pediatrics. Ed. Cabana MD. (Elsevier; Philadelphia, PA)
Unrelated donor bone marrow transplantation for Fanconi anemia.
Estimating single-channel kinetic parameters from idealized patch-clamp data containing missed events.
Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.
Activation kinetics of recombinant mouse nicotinic acetylcholine receptors: mutations of alpha-subunit tyrosine 190 affect both binding and gating.
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
Kinetic properties of NMDA receptors in embryonic Xenopus spinal neurons.
Activation of recombinant mouse acetylcholine receptors by acetylcholine, carbamylcholine and tetramethylammonium.
Clonality studies and N-ras and p53 mutation analysis of hematopoietic cells in Fanconi anemia.
Mutation analysis of the Fanconi anemia gene FACC.