Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Steven J. Leeder"'
Autor:
Lee Zellmer, Josh E Petrikin, Anne Holmes, David Dimmock, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, Carol J. Saunders, Emily G. Farrow, Nathaly M. Sweeney, Isabelle Thiffault, Suzanne Herd, Stephen F. Kingsmore, Steven J. Leeder, Neil A. Miller, Julie A. Cakici, Laurel K. Willig, Michelle M. Clark
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late to guide i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba4553eb224c22d13abf9805dc5cdfd9
https://doi.org/10.1038/s41525-018-0045-8
https://doi.org/10.1038/s41525-018-0045-8
Autor:
Pui-Yan Kwok, Joshua E. Petrikin, Galen Joseph, Cynthia M. Powell, Barbara A. Koenig, Joseph T. Shieh, Anastasia L. Wise, Megan A. Lewis, Robert Currier, Flavia Chen, Julie Harris-Wai, Sean D. Mooney, Richard B. Parad, Timothy W. Yu, Michael S. Watson, Myra I. Roche, Tiina K. Urv, Neil Risch, Bradford C. Powell, Robert C. Green, Ozge Ceyhan-Birsoy, Laurel K. Willig, Ingrid A. Holm, Stephen F. Kingsmore, Amy L. McGuire, Heidi L. Rehm, Julie A. Cakici, Donald B. Bailey, Steven J. Leeder, Stacey Pereira, Alan H. Beggs, Narayanan Veeraraghavan, Dmitry Dukhovny, Steven E. Brenner, Amy Brower, Jennifer M. Puck, Pankaj B. Agrawal, John D. Lantos, Laura V. Milko, Jonathan S. Berg, Brenda Iglesias, Kee Chan
Publikováno v:
Pediatrics, vol 139, iss 2
Berg, JS; Agrawal, PB; Bailey, DB; Beggs, AH; Brenner, SE; Brower, AM; et al.(2017). Newborn sequencing in genomic medicine and public health. Pediatrics, 139(2). doi: 10.1542/peds.2016-2252. UCSF: Retrieved from: http://www.escholarship.org/uc/item/68b8k0r9
Berg, JS; Agrawal, PB; Bailey, DB; Beggs, AH; Brenner, SE; Brower, AM; et al.(2017). Newborn sequencing in genomic medicine and public health. Pediatrics, 139(2). doi: 10.1542/peds.2016-2252. UCSF: Retrieved from: http://www.escholarship.org/uc/item/68b8k0r9
© 2017 by the American Academy of Pediatrics. The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genomescale sequencing could have widespread availability in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0f5cc7bcb558bee0675ccdbd1e7569
https://escholarship.org/uc/item/68b8k0r9
https://escholarship.org/uc/item/68b8k0r9
Autor:
Jonathan Akikusa, Salvatore Albani, Roger Allen, Khaled Alsaeid, Tadej Avčin, Paul S. Babyn, Arvind Bagga, Karyl S. Barron, Mara L. Becker, Susanne M. Benseler, Timothy Beukelman, Paul Brogan, Hermine I. Brunner, Rubèn Burgos-Vargas, Jill Buyon, David A. Cabral, Sharon Choo, Rolando Cimaz, Robert Allen Colbert, William G. Cole, Iris Davidson, Fabrizio De Benedetti, Andrea S. Doria, Frank Dressler, Ciarán M. Duffy, Despina Eleftheriou, Brian M. Feldman, Polly J. Ferguson, Robert Fuhlbrigge, Marco Gattorno, Alexei A. Grom, Philip J. Hashkes, Kristin Houghton, Hans-Iko Huppertz, Norman T. Ilowite, Edgar Jaeggi, Daniel L. Kastner, Adam Kirton, Marisa Klein-Gitelman, Gay Kuchta, Jerome Charles Lane, Ronald M. Laxer, Claire LeBlanc, Steven J. Leeder, G. Elizabeth Legger, Suzanne C. Li, Carol B. Lindsley, Dan Lovell, Outi Makitie, Alberto Martini, Frederick W. Miller, Kimberly Morishita, Peter A. Nigrovic, Kiem G. Oen, Kathleen M. O'Neil, Seza Ozen, Peri H. Pepmueller, Ross E. Petty, Elena Pope, Sampath Prahalad, Berent Prakken, Michael Rapoff, Lisa G. Rider, Carlos Daniel Rosé, James T. Rosenbaum, Alan M. Rosenberg, Johannes Roth, Ricardo Alberto Guillermo, Rayfel Schneider, Christiaan Scott, David D. Sherry, Earl Silverman, Mary Beth Son, Robert P. Sundel, Susan D. Thompson, Karin Tiedemann, Shirley M.L. Tse, Lori Tucker, Yosef Uziel, Joris van Montfrans, Janitzia Vazques-Mellado, Leanne Ward, Lucy R. Wedderburn, Carine Wouters, James Wright, Nico M. Wulffraat, Lawrence Zemel, Francesco Zulian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2361a7d29be1e6ac2070f5681103d3ef
https://doi.org/10.1016/b978-0-323-24145-8.00060-0
https://doi.org/10.1016/b978-0-323-24145-8.00060-0
Autor:
Carrie A. Vyhlidal, Vivekanand Singh, William San Pablo, Gregory L. Kearns, Daniel James, Craig A. Friesen, Valentina Shakhnovich, Steven J. Leeder, Amber Hildreth
Publikováno v:
Inflammatory Bowel Diseases. 19:S108-S109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d05c89244b0ce2c1e83d85fce3dbd26
https://doi.org/10.1097/01.mib.0000439008.73617.d6
https://doi.org/10.1097/01.mib.0000439008.73617.d6
Publikováno v:
The Lancet. 368:704
In April, 2005, a full-term healthy male infant, delivered vaginally, showed intermittent periods of diffi culty in breastfeeding and lethargy starting on day 7. During a well-baby paediatric visit on day 11, the paediatrician noted that the baby had
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4560d9a54951f62b63ae35386e0050a
https://doi.org/10.1016/s0140-6736(06)69255-6
https://doi.org/10.1016/s0140-6736(06)69255-6