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American Journal of Human Genetics|November 6, 2002
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosisPierre Chagnon, Jacques Michaud, Grant Mitchell, et al.
Human Mutation|September 4, 2008
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defectsKaren E Christensen, Charles V Rohlicek, Gregor U Andelfinger, et al.
Cardiology in the Young|April 6, 2012
Risk of congenital heart defects is influenced by genetic variation in folate metabolismKaren E Christensen, Yassamin Feroz Zada, Charles V Rohlicek, et al.
The Analyst|June 30, 2018
Revealing the spatial distribution of chemical species within latent fingermarks using vibrational spectroscopyBuddhika N Dorakumbura, Rhiannon E Boseley, Thomas Becker, et al.
Cardiology in the Young|July 7, 2011
Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in QuebecMarie-Pierre Dubé, Jean-Luc Bigras, Maryse Thibeault, et al.
Oncotarget|September 5, 2015
Oncogenic features of the bone morphogenic protein 7 (BMP7) in pheochromocytomaInes Leinhäuser, Andrea Richter, Misu Lee, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 7, 2012
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Martine Girard, Roxanne Larivière, David A Parfitt, et al.
Plos Genetics|September 13, 2012
Rare copy number variants contribute to congenital left-sided heart diseaseMarc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian Marshall, et al.
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