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Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|October 19, 2023
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective studyGuillaume Fargeot, Andoni Echaniz-Laguna, Céline Labeyrie, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.Clinical Journal of the American Society of Nephrology : CJASN|April 24, 2010
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney diseaseMeral Gunay-Aygun, Esperanza Font-Montgomery, Linda Lukose, et al.Frontiers in Medicine|October 28, 2016
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program ExperienceAmanda E Links, David Draper, Elizabeth Lee, et al.Plos Genetics|October 25, 2011
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesTyler Mark Pierson, David Adams, Florian Bonn, et al.Journal of the American College of Cardiology|November 21, 2024
Advanced Imaging Assessment of the Impact of Tricuspid Regurgitation on Cardiac Remodeling: The TRILUMINATE Pivotal Imaging SubstudyJoão L Cavalcante, Markus Scherer, Miho Fukui, et al.Transplantation|July 10, 2024
Islet Isolation Outcomes in Patients Undergoing Total Pancreatectomy With Islet Autotransplantation in the POST ConsortiumJordan Mattke, Anne Eaton, Martin Wijkstrom, et al.Heart Rhythm|November 8, 2016
Simultaneous noninvasive recording of skin sympathetic nerve activity and electrocardiogramAnisiia Doytchinova, Jonathan L Hassel, Yuan Yuan, et al.Science Translational Medicine|January 6, 2012
Novel adenovirus-based vaccines induce broad and sustained T cell responses to HCV in manEleanor Barnes, Antonella Folgori, Stefania Capone, et al.BMC Family Practice|September 24, 2020
Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitionerMorie Gertz, David Adams, Yukio Ando, et al.Pageof 34