Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Duane Superneau"'
Autor:
Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila, Susan M. Hiatt, Donald R. Latner, Michelle D. Amaral, James M.J. Lawlor, Kelly M. East, Meagan E. Cochran, Veronica Greve, Whitley V. Kelley, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C.E. Hurst, Jegen Kandasamy, Wally Carlo, Kyle B. Brothers, Brian M. Kirmse, Renate Savich, Duane Superneau, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper
Publikováno v:
Genet Med
PURPOSE: SouthSeq is a translational research study that performed genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeas
Autor:
Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila, Susan M. Hiatt, Donald R. Latner, Michelle D. Amaral, James M.J. Lawlor, Kelly M. East, Meagan E. Cochran, Veronica Greve, Whitley V. Kelley, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C.E. Hurst, Jegen Kandasamy, Wally Carlo, Kyle B. Brothers, Brian M. Kirmse, Renate Savich, Duane Superneau, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper
PurposeSouthSeq, a translational research study to perform genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder, was conducted in NICUs in the Southeastern US. Recruitment targeted racial/ethnic minorities and rural, medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94497677121ed14a19dbae2b2378b755
https://doi.org/10.1101/2021.08.31.21262633
https://doi.org/10.1101/2021.08.31.21262633
Autor:
Donald Latner, Kevin Bowling, Michelle Thompson, Candice Finnila, Susan Hiatt, Michelle Amaral, James Lawlor, Kelly East, Meagan Cochran, Veronica Greve, Whitley V. Kelley, David Gray, Stephanie Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly Jackson, Laura Hendon, Hillary Janani, Marla Johnston, Lee Ann Merin, Sarah Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew Neu, Jessica Patrick-Esteve, Anna Hurst, Jegen Kandasamy, Waldemar Carlo, Kyle Brothers, Brian Kirmse, Renate Savich, Duane Superneau, Steven Spedale, Sara Knight, Gregory Barsh, Bruce Korf, Gregory Cooper
Publikováno v:
Genetics in Medicine. 24:S233-S234
Autor:
Kyle Brothers, Carla Rich, Emily Gimpel, Kelly East, Meagan Cochran, Veronica Greve, Whitley V. Kelley, Kelly Jackson, Laura Hendon, Amanda Luedecke, Hillary Janani, Hannah Meddaugh, Donald Latner, Kevin Bowling, Michelle Thompson, Candice Finnila, Susan Hiatt, Michelle Amaral, James Lawlor, David Gray, Stephanie Felker, Ashley Cannon, Marla Johnston, Lee Ann Merin, Sarah Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew Neu, Jessica Patrick-Esteve, Anna Hurst, Jegen Kandasamy, Waldemar Carlo, Brian Kirmse, Renate Savich, Duane Superneau, Steven Spedale, Sara Knight, Gregory Barsh, Bruce Korf, Gregory Cooper
Publikováno v:
Genetics in Medicine. 24:S266
Publikováno v:
Congenital Heart Disease. 6:397-401
Pompe disease is a rare genetic disorder resulting from a deficiency of the acid α-glucosidase enzyme. Although arrhythmias occur in these patients undergoing general anesthesia, they have not received sufficient emphasis in pediatric cardiology. We
Publikováno v:
Congenital heart disease. 6(4)
Pompe disease is a rare genetic disorder resulting from a deficiency of the acid α-glucosidase enzyme. Although arrhythmias occur in these patients undergoing general anesthesia, they have not received sufficient emphasis in pediatric cardiology. We