Publications

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Displaying 1 through 7 of 7 publications.

Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study. Genet Med. 2021 Nov;23(11):2067-75. doi: 10.1038/s41436-021-01259-x

Lewis MA, Stine A, Paquin RS, Mansfield C, Wood D, Rini C, Roche MI, Powell CM, Berg JS, Bailey, Jr DB. Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment. Genet Med. 2018 Feb;20(2):181-9. doi: 10.1038/gim.2017.93

Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, Hawe E, Iversen A, Wray R, Crook MA, Wierzbicki AS. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med (Berl). 2006;84(3):203-14.

Harp JB, Franklin D, Vanderpuije AA, Gimble JM. Differential expression of signal transducers and activators of transcription during human adipogenesis. Biochem Biophys Res Commun. 2001 Mar 1;281(4):907-12.

Margarit E, Guillén A, Rebordosa C, Vidal-Taboada J, Sánchez M, Ballesta F. Identification of conserved potentially regulatory sequences of the sry gene from 10 different species of mammals. Biochem Biophys Res Commun. 1998 Apr 17;245(2):370-7.

Palka P, Lange A, Wright RA, Starkey IR, Fleming AD, Bouki KP, Sutherland GR, Shaw TRD, Fox KAA. Myocardial velocity gradient measured throughout the cardiac cycle in dilated cardiomyopathy hearts — a potential new parameter of systolic and diastolic myocardial function by Doppler myocardial imaging. European journal of ultrasound. 1997 Jun 1;5(3):141-54. doi: 10.1016/S0929-8266(97)00014-1

Hoskins PR, Fleming A, Stonebridge PA, Allan PL, Cameron D. Scan-plane vector maps and secondary flow motions in arteries. European journal of ultrasound. 1994 Apr 1;1(2):159-69.