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Plos One|September 2, 2016
Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like CellsChristoph J Niemietz, Vanessa Sauer, Jacqueline Stella, et al.
Clinical Transplantation|March 15, 2008
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutationHartmut H-J Schmidt, Uwe J F Tietge, Janine Buettner, et al.
The Journal of Clinical Endocrinology and Metabolism|February 5, 2010
LMNA mutations, skeletal muscle lipid metabolism, and insulin resistanceMichael Boschmann, Stefan Engeli, Cedric Moro, et al.
Journal of Neurology|August 27, 2013
Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathyTeresa Coelho, Luis F Maia, Ana Martins da Silva, et al.
The American Journal of Gastroenterology|February 24, 2006
DLG5 variants in inflammatory bowel diseaseCarsten Büning, Lars Geerdts, Thomas Fiedler, et al.
Basic Research in Cardiology|September 17, 2008
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathyAndreas Perrot, Shwan Hussein, Volker Ruppert, et al.
Inflammatory Bowel Diseases|December 20, 2007
No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: a study in 3 independent European cohortsCarsten Büning, Hartmut H-J Schmidt, Tamás Molnár, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|March 6, 2020
Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosisLaura Obici, John L Berk, Alejandra González-Duarte, et al.
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