Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Kara A. Mensink"'
Autor:
Philippe Aftimos, M. Rabie Al-Turkmani, Hatem A. Azim, Sheldon I. Bastacky, David O. Beenhouwer, Jaideep Behari, María Berdasco, Joseph R. Biggs, Mariana Brandão, Sheldon Campbell, Wai-Yee Chan, William B. Coleman, Massimiliano M. Corsi Romanelli, Robin D. Couch, Justin B. Davis, Sophie J. Deharvengt, Armando J. Del Portillo, Virginia Espina, Manel Esteller, Carol F. Farver, Michael D. Feldman, Susan L. Fink, Margaret Flanagan, Claudia Fredolini, William K. Funkhouser, Matthias E. Futschik, Emanuela Galliera, Avrum I. Gotlieb, Robert F. Hevner, W. Edward Highsmith, Christopher Dirk Keene, Nigel S. Key, Christine M. Koellner, Joel A. Lefferts, John J. Lemasters, Markus M. Lerch, Lance A. Liotta, Youhua Liu, Karen H. Lu, Nicholas W. Lukacs, Alice D. Ma, Karlyn Martin, Julia Mayerle, Kara A. Mensink, Samuel C. Mok, Satdarshan P.S. Monga, Thomas J. Montine, Jason H. Moore, Markus Morkel, Karl Munger, Zoltan Nagymanyoki, Robert D. Nerenz, Alan L.-Y. Pang, Emanuel Petricoin, Catherine Ptaschinski, Reinhold Schäfer, Matthias Sendler, Antonia R. Sepulveda, Christine Sers, Lawrence M. Silverman, Joshua A. Sonnen, Christos Sotiriou, Roderick J. Tan, Gregory J. Tsongalis, Vesarat Wessagowit, Eli S. Williams, Kwong-Kwok Wong, Dani S. Zander, Dong-Er Zhang, Weidong Zhou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0615ebb33bf3486c66b41e28515b9628
https://doi.org/10.1016/b978-0-12-813257-9.00039-5
https://doi.org/10.1016/b978-0-12-813257-9.00039-5
Molecular diagnostics is the branch of laboratory medicine or clinical pathology that utilizes the techniques of molecular biology to diagnose disease, predict disease course, select treatments, and monitor the effectiveness of therapies. Molecular d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9db4c89b53087081a73c78feb735a2
https://doi.org/10.1016/b978-0-12-802761-5.00005-5
https://doi.org/10.1016/b978-0-12-802761-5.00005-5
Autor:
Alexander Fiksdal, Kara A. Mensink, Matthew J. Ferber, Yuan Ji, Douglas L. Riegert-Johnson, Kelly E. Ormond, Eric W. Klee, W. Edward Highsmith, Kimberly A. Schahl, Jennifer B. McCormick, John L. Black, Eric D. Wieben, Tammy M. McAllister, Umut Aypar, Noralane M. Lindor, Gianrico Farrugia, Stephen N. Thibodeau, Rondell P. Graham, Kiley J. Johnson, Vivek Sarangi, Katherine S. Hunt
Publikováno v:
Mayo Clinic Proceedings. 90:1327-1337
Objective To understand motivations, educational needs, and concerns of individuals contemplating whole-exome sequencing (WES) and determine what amount of genetic information might be obtained by sequencing a generally healthy cohort so as to more e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1e19eb7bf7dbe5f51e533b15b02ab3f
https://doi.org/10.1016/j.mayocp.2015.05.021
https://doi.org/10.1016/j.mayocp.2015.05.021
Autor:
Brian Dawson, Charles A. Kroll, George C. Cunningham, John Sherwin, Robert M. Jacobson, Piero Rinaldo, Dietrich Matern, Si Houn Hahn, Kara A. Mensink, Fred Lorey, Matthew J. Ferber
Publikováno v:
Molecular Genetics and Metabolism. 89:134-138
Wilson disease is an autosomal recessive disorder of copper transport, caused by the reduced or absent function of the Wilson disease gene ATP7B on chromosome 13. The disease is characterized by reduced incorporation of copper into the ceruloplasmin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::296dd82d1494484ae972675ae72be2ad
https://doi.org/10.1016/j.ymgme.2006.03.008
https://doi.org/10.1016/j.ymgme.2006.03.008
Autor:
Daniel D. Buchanan, Amanda B. Spurdle, Melissa A. Barker, Stephen N. Thibodeau, Leigh Jackson, Jeremy R. Jass, Michael Walsh, Mark A. Jenkins, Lesley Jaskowski, John L. Hopper, Sven Arnold, Samantha Holman, Kara A. Mensink, Joanne P. Young
Publikováno v:
European Journal of Human Genetics. 15:139-141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db072faeef64b393313aad0f942cdc09
https://doi.org/10.1038/sj.ejhg.5201740
https://doi.org/10.1038/sj.ejhg.5201740
Autor:
Steven Gallinger, Noralane M. Lindor, John D. Potter, Spring Holter, Kandelaria M. Rumilla, Daniel J. Weisenberger, John L. Hopper, Tiffany I. Long, Brittany C. Thomas, Karen V. Schowalter, Kara A. Mensink, Peter W. Laird, Loic Le Marchand, Polly A. Newcomb, Stephen N. Thibodeau, Mark A. Jenkins, Graham Casey, Robert W. Haile
Publikováno v:
The Journal of molecular diagnostics : JMD. 13(1)
Lynch syndrome is an autosomal dominant cancer predisposition syndrome characterized by loss of function of DNA mismatch repair enzyme MLH1, MSH2, MSH6, or PMS2. Mutations in MLH1 and MSH2 account for ∼80% of the inherited cases. However, in up to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a9d86c39f5ceec1123705934c294dd0
https://pubmed.ncbi.nlm.nih.gov/21227399
https://pubmed.ncbi.nlm.nih.gov/21227399
Autor:
Dara L. Aisner, M. Michael Barmada, Philippe L. Bedard, David O. Beenhouwer, Jaideep Behari, Maria Berdasco, Carlise R. Bethel, Joseph R. Biggs, Grant C. Bullock, Sheldon M. Campbell, Wai-Yee Chan, William B. Coleman, Mattia Cremona, Angelo M. De Marzo, Phuong Dinh, Vladislav Dolgachev, Virginia Espina, Manel Esteller, Carol F. Farver, William K. Funkhouser, Avrum I. Gotlieb, Robert F. Hevner, W. Edward Highsmith, C. Dirk Keene, Wolfgang Kemmner, Nigel S. Key, Hong Kee Lee, Joel A. Lefferts, John J. Lemasters, Markus M. Lerch, Lance A. Liotta, Alessandra Luchini, Amber Chang Liu, Karen Lu, Nicholas W. Lukacs, Alice D. Ma, Julia Mayerle, Kara A. Mensink, Samuel Chi-ho Mok, Satdarshan (Paul) Singh Monga, Thomas J. Montine, Jason H. Moore, Amy K. Mottl, Karl Munger, Zoltan Nagymanyoki, William G. Nelson, Carla Nester, Margret D. Oethinger, Alan L.-Y. Pang, Emanuel F. Petricoin, Ashley G. Rivenbark, C. Harker Rhodes, Tara C. Rubinas, Reinhold Schafer, Matthias Sendler, Antonia R. Sepulveda, Christine Sers, Lawrence M. Silverman, Natasa Snoj, Joshua A. Sonnen, Christos Sotiriou, Gregory J. Tsongalis, Vesarat Wessagowit, David C. Whitcomb, Kwong-kwok Wong, Dani S. Zander, Dong-Er Zhang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c38787e5381f7262ddb81b93a83e5a1
https://doi.org/10.1016/b978-0-12-374418-0.00039-6
https://doi.org/10.1016/b978-0-12-374418-0.00039-6
Publikováno v:
Genetics of Colorectal Cancer ISBN: 9780387095677
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2345ce59ffcc20173501d21169490c1a
https://doi.org/10.1007/978-0-387-09568-4_12
https://doi.org/10.1007/978-0-387-09568-4_12
Autor:
Dara L. Aisner, M. Michael Barmada, Philippe Bedard, David O. Beenhouwer, Jaideep Behari, Maria Berdasco, Carlise R. Bethel, Joseph R. Biggs, Grant C. Bullock, Sheldon M. Campbell, Wai-Yee Chan, William B. Coleman, Angelo M. De Marzo, Phuong Dinh, Vladislav Dolgachev, Virginia Espina, Manel Esteller, Carol Farver, Claudia Fredolini, William K. Funkhouser, Matthias E. Futschik, Avrum I. Gotlieb, Robert Hevner, W. Edward Highsmith, C. Dirk Keene, Wolfgang Kemmner, Nigel S. Key, Hong Kee Lee, Joel A. Lefferts, John J. Lemasters, Markus M. Lerch, Lance Liotta, Amber Chang Liu, Karen Lu, Nicholas W. Lukacs, Alice Ma, Arlene Martin, Malcolm M. Martin, Julia Mayerle, John A. McGrath, Kara A. Mensink, Samuel Chi-ho Mok, Satdarshan (Paul) Singh Monga, Thomas J. Montine, Jason H. Moore, Karl Münger, Zoltan Nagymanyoki, William G. Nelson, Margret Oethinger, Alan LP Pang, Emanuel Petricoin, Ashley Rivenbark, C. Harker Rhodes, Tara Rubinas, Reinhold Schafer, Matthias Sendler, Antonia Sepúlveda, Christine Sers, Lawrence M. Silverman, Natasha Snoj, Joshua A. Sonnen, Christos Sotiriou, Gregory J. Tsongalis, Vesarat Wessagowit, David C. Whitcomb, Kwong-kwok Wong, Dani S. Zander, Dong-Er Zhang, Weidong Zhou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d4b1401ad87cd827ef7de3e7efef6be
https://doi.org/10.1016/b978-0-12-374419-7.00033-0
https://doi.org/10.1016/b978-0-12-374419-7.00033-0