PMC Links for Books (Select 1493592) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 56124242.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

Carlo Rinaldi, Thomas Schmidt, Alan J. Situ, Janel O. Johnson, Philip R. Lee, Ke-lian Chen, Laura C. Bott, Rut Fadó, George H. Harmison, Sara Parodi, Christopher Grunseich, Benoît Renvoisé, Leslie G. Biesecker, Giuseppe De Michele, Filippo M. Santorelli, Alessandro Filla, Giovanni Stevanin, Alexandra Dürr, Alexis Brice, Núria Casals, Bryan J. Traynor, Craig Blackstone, Tobias S. Ulmer, Kenneth H. Fischbeck

JAMA Neurol. Author manuscript; available in PMC 2017 Sep 25.

Published in final edited form as: JAMA Neurol. 2015 May; 72(5): 561–570. doi: 10.1001/jamaneurol.2014.4769

Correction in:: JAMA Neurol. 2015 May; 72(5): 608.

PMCID:: PMC5612424

Abstract Article PDF–1.3M

Select item 42255823.

A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations

Florian J. Clemente, Alexia Cardona, Charlotte E. Inchley, Benjamin M. Peter, Guy Jacobs, Luca Pagani, Daniel J. Lawson, Tiago Antão, Mário Vicente, Mario Mitt, Michael DeGiorgio, Zuzana Faltyskova, Yali Xue, Qasim Ayub, Michal Szpak, Reedik Mägi, Anders Eriksson, Andrea Manica, Maanasa Raghavan, Morten Rasmussen, Simon Rasmussen, Eske Willerslev, Antonio Vidal-Puig, Chris Tyler-Smith, Richard Villems, Rasmus Nielsen, Mait Metspalu, Boris Malyarchuk, Miroslava Derenko, Toomas Kivisild

Am J Hum Genet. 2014 Nov 6; 95(5): 584–589. doi: 10.1016/j.ajhg.2014.09.016

PMCID:: PMC4225582

Abstract Article PDF–1.1M

Select item 31977934.

Impaired fasting tolerance among Alaska Native Children with a common Carnitine Palmitoyltransferase 1A sequence variant

Melanie B. Gillingham, Matthew Hirschfeld, Sarah Lowe, Dietrich Matern, James Shoemaker, William E. Lambert, David M. Koeller

Mol Genet Metab. Author manuscript; available in PMC 2012 Nov 1.

Published in final edited form as: Mol Genet Metab. 2011 Nov; 104(3): 261–264. Published online 2011 Jun 28. doi: 10.1016/j.ymgme.2011.06.017

PMCID:: PMC3197793

Abstract Article PDF–326K

Select item 26814055.

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I

Chandheeb Rajakumar, Matthew R. Ban, Henian Cao, T. Kue Young, Peter Bjerregaard, Robert A. Hegele

J Lipid Res. 2009 Jun; 50(6): 1223–1228. doi: 10.1194/jlr.P900001-JLR200

PMCID:: PMC2681405

Abstract Article PDF–495K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity