The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

by Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M
Published 2015

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

by Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu
Published 2018-03-01

The ‘Morbid Anatomy’ of the Human Genome: Tracing the Observational and Representational Approaches of Postwar Genetics and Biomedicine The William Bynum Prize Essay

by Hogan, Andrew J.
Published 2014

HUMHOT: a database of human meiotic recombination hot spots

by Nishant, K. T., Kumar, Chetan, Rao, M. R. S.
Published 2006

HMDB: the Human Metabolome Database

by Wishart, David S., Tzur, Dan, Knox, Craig, Eisner, Roman, Guo, An Chi, Young, Nelson, Cheng, Dean, Jewell, Kevin, Arndt, David, Sawhney, Summit, Fung, Chris, Nikolai, Lisa, Lewis, Mike, Coutouly, Marie-Aude, Forsythe, Ian, Tang, Peter, Shrivastava, Savita, Jeroncic, Kevin, Stothard, Paul, Amegbey, Godwin, Block, David, Hau, David. D., Wagner, James, Miniaci, Jessica, Clements, Melisa, Gebremedhin, Mulu, Guo, Natalie, Zhang, Ying, Duggan, Gavin E., MacInnis, Glen D., Weljie, Alim M., Dowlatabadi, Reza, Bamforth, Fiona, Clive, Derrick, Greiner, Russ, Li, Liang, Marrie, Tom, Sykes, Brian D., Vogel, Hans J., Querengesser, Lori
Published 2007

In silico tools for splicing defect prediction - A survey from the viewpoint of end-users

by Jian, Xueqiu, Boerwinkle, Eric, Liu, Xiaoming
Published 2013

Mining the human genome after Association for Molecular Pathology v. Myriad Genetics

by Evans, Barbara J
Published 2014

The Human Genome Project, and recent advances in personalized genomics

by Wilson, Brenda J, Nicholls, Stuart G
Published 2015

Genetic and Preventive Services for Hereditary Breast and Ovarian Cancer in the Czech Republic

by Foretova, Lenka, Petrakova, Katarina, Palacova, Marketa, Kalabova, Renata, Navratilova, Marie, Lukesova, Miroslava, Vasickova, Petra, Machackova, Eva, Kleibl, Zdenek, Pohlreich, Petr
Published 2006

Human genetics in troubled times and places

by Peter S. Harper
Published 2017-08-01

Role of elosulfase alfa in mucopolysaccharidosis IVA

by Regier, Debra S, Tanpaiboon, Pranoot
Published 2016