Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Christina Bridges"'
Autor:
Heather Zimmermann, Anthony Morise, Jesus Ramirez Castano, Nelly Albualkheir, Christina Bridges, Ginger Tsai, Amybeth Weaver, Rachid Karam
Publikováno v:
Journal of Clinical Lipidology. 16:e10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9aa15096b812608d34f15f8ca8b819ce
https://doi.org/10.1016/j.jacl.2021.09.015
https://doi.org/10.1016/j.jacl.2021.09.015
Autor:
Christina Bridges, Ramaswamy K. Iyer, Lisa V. Kalman, Pinar Bayrak-Toydemir, Jack Tarleton, Shannon D. Barker, Arlene Buller-Burckle, Lorraine Toji, Sherri J. Bale, Soma Das, Timothy D. Vo, Val V. Zvereff, Alan K. Percy, Swaroop Aradhya
Publikováno v:
The Journal of Molecular Diagnostics. 16(2):273-279
Rett syndrome is a dominant X-linked disorder caused by point mutations (approximately 80%) or by deletions or insertions (approximately 15% to 18%) in the MECP2 gene. It is most common in females but lethal in males, with a distinctly different phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e315ac848c49892d05e21464ae541e4
Autor:
Tianhui Ma, Christina Bridges, Jay Leonard, Yetsa Adadevoh, Norman P. Gerry, Julie M. Gastier-Foster, C. Sue Richards, Monique A. Johnson, Pat Furlong, Christine Beiswanger, Eileen Stonerock, Lisa V. Kalman, Lorraine Toji, Iris Schrijver, Jack Tarleton, Vanessa Rangel Miller, Robert E. Pyatt
Publikováno v:
The Journal of Molecular Diagnostics. 13:167-174
Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male individuals, respectively. Approximately 65% of patients with DMD have deletions, 7% to 10% have dupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d060851bb3eca7100f623b3546b0d875
https://doi.org/10.1016/j.jmoldx.2010.11.018
https://doi.org/10.1016/j.jmoldx.2010.11.018
Autor:
Michele Caggana, Elizabeth M. Rohlfs, Shannon D. Barker, Victoria M. Pratt, Kasinathan Muralidharan, W. Edward Highsmith, Lisa V. Kalman, Leonard M. Holtegaard, Christina Bridges, Jack Tarleton, Arlene Buller, Lorraine Toji, Lisa DiAntonio
Publikováno v:
The Journal of Molecular Diagnostics. 11:186-193
The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and other reference materials available, none of which cover all of the alleles included in co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59192079c2c5cb7b5a3b2c5974ecfccc
https://doi.org/10.2353/jmoldx.2009.080149
https://doi.org/10.2353/jmoldx.2009.080149
Autor:
Lisa, Kalman, Jay, Leonard, Norman, Gerry, Jack, Tarleton, Christina, Bridges, Julie M, Gastier-Foster, Robert E, Pyatt, Eileen, Stonerock, Monique A, Johnson, C Sue, Richards, Iris, Schrijver, Tianhui, Ma, Vanessa Rangel, Miller, Yetsa, Adadevoh, Pat, Furlong, Christine, Beiswanger, Lorraine, Toji
Publikováno v:
The Journal of molecular diagnostics : JMD. 13(2)
Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male individuals, respectively. Approximately 65% of patients with DMD have deletions, 7% to 10% have dupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c96e0a722f013a3d0e041127ae7f4c7c
https://pubmed.ncbi.nlm.nih.gov/21354051
https://pubmed.ncbi.nlm.nih.gov/21354051