Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Christine E. Miller"'
Autor:
Scott E. Gold, Daren W. Brown, Felicia N. Williams, Brian D. Nadon, Vivian T. Vo, Christine E. Miller
Publikováno v:
Journal of Fungi, Vol 10, Iss 8, p 592 (2024)
Fungal genetic systems ideally combine molecular tools for genome manipulation and a sexual reproduction system to create an informative assortment of combinations of genomic modifications. When employing the sexual cycle to generate multi-mutants, t
Externí odkaz:
https://doaj.org/article/ad97ffeefe39421f8a7bcf9b7853e6e8
Autor:
Joseph Reiley, Pablo Botas, Christine E. Miller, Jian Zhao, Sabrina Malone Jenkins, Hunter Best, Peter H. Grubb, Rong Mao, Julián Isla, Luca Brunelli
Publikováno v:
Children, Vol 10, Iss 6, p 991 (2023)
Mendelian disorders are prevalent in neonatal and pediatric intensive care units and are a leading cause of morbidity and mortality in these settings. Current diagnostic pipelines that integrate phenotypic and genotypic data are expert-dependent and
Externí odkaz:
https://doaj.org/article/84a4236e84f441e4854377fe749bbcb5
Autor:
Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) of
Externí odkaz:
https://doaj.org/article/1827760dc59544598719c7df6f5aa0f2
Autor:
Luca Brunelli, Sabrina M. Jenkins, James M. Gudgeon, Steven B. Bleyl, Christine E. Miller, Tatiana Tvrdik, Shale A. Dames, Betsy Ostrander, Josue A. F. Daboub, Brandon A. Zielinski, Erin K. Zinkhan, Hunter R. Underhill, Theodore Wilson, Joshua L. Bonkowsky, Christian C. Yost, Lorenzo D. Botto, Justin Jenkins, Theodore J. Pysher, Pinar Bayrak‐Toydemir, Rong Mao
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for th
Externí odkaz:
https://doaj.org/article/ff0818469b6d4546ba5c6c6d5a8b0081
Autor:
Brunelli, Joseph Reiley, Pablo Botas, Christine E. Miller, Jian Zhao, Sabrina Malone Jenkins, Hunter Best, Peter H. Grubb, Rong Mao, Julián Isla, Luca
Publikováno v:
Children; Volume 10; Issue 6; Pages: 991
Mendelian disorders are prevalent in neonatal and pediatric intensive care units and are a leading cause of morbidity and mortality in these settings. Current diagnostic pipelines that integrate phenotypic and genotypic data are expert-dependent and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::f9ab5f6a44c888e8206caf2d1be6dd65
Autor:
Trevor R. Mitchell, Mark E. Berrang, Scott E. Gold, Kurt C. Lawrence, Anthony E. Glenn, Gary R. Gamble, Peggy W. Feldner, Jaci A. Hawkins, Christine E. Miller, Drew E. Olson, Debolina Chatterjee, Callie M. Mcdonough, Anthony Pokoo-Aikins
Publikováno v:
Journal of Food Protection. 85:798-802
Semicarbazide (SEM) is routinely employed as an indicator for the use of nitrofurazone, a banned antimicrobial. The validity of SEM as a nitrofurazone marker has been scrutinized because of other possible sources of the compound. Nonetheless, a U.S.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2028af9f8cea3c774e436626773e177a
https://doi.org/10.4315/jfp-22-012
https://doi.org/10.4315/jfp-22-012
Autor:
Rebecca L. Margraf, Rachel Z. Alexander, Makenzie L. Fulmer, Christine E. Miller, Elena Coupal, Rong Mao
Publikováno v:
Human mutationREFERENCES.
The Multiple Endocrine Neoplasia type 2 (MEN2) RET proto-oncogene database, originally published in 2008, is a comprehensive repository of all publicly available RET gene variations associated with MEN2 syndromes. The variant-specific genotype/phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c10ee68929745c8a7395b2f70777d8
https://pubmed.ncbi.nlm.nih.gov/36251279
https://pubmed.ncbi.nlm.nih.gov/36251279
Autor:
Jordan Langford, Lana Vukadin, John C. Carey, Lorenzo D. Botto, Matt Velinder, Rong Mao, Christine E. Miller, Francis Filloux, Eun-Young Erin Ahn
Publikováno v:
Neurology Genetics. 9:e200062
Background and ObjectivesZhu-Tokita-Takenouchi-Kim (ZTTK) syndrome (OMIM 617140) is a recently identified neurodevelopmental disorder caused by heterozygous loss-of-function (LoF) variants inSON. Because the SON protein functions as an RNA-splicing r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f54b0d3d45b099faa19b6ee40a5f3faf
https://doi.org/10.1212/nxg.0000000000200062
https://doi.org/10.1212/nxg.0000000000200062
Publikováno v:
J Genet Couns
Expanded carrier screening (ECS) is increasingly offered to a broader population and raises challenges of how to best educate and counsel the volume of screened individuals. For this study, we compared three educational tools (brochure, video and com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bb47167787febe18688b27fbea63523
https://doi.org/10.1002/jgc4.1349
https://doi.org/10.1002/jgc4.1349
Autor:
Christine E. Miller, Robert G. Papp
Publikováno v:
The Soviet Navy ISBN: 9780429314797
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d373d6164a56eb75c09c206fc0451674
https://doi.org/10.4324/9780429314797-3
https://doi.org/10.4324/9780429314797-3
