Resultados de procura - David Dimmock
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Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches por Suyash Prasad, David Dimmock, Benjamin Greenberg, Jagdeep S. Walia, Chanchal Sadhu, Fatemeh Tavakkoli, Gerald S. Lipshutz
Publicado 2022Revisão -
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An online compendium of treatable genetic disorders por David Bick, Sarah L. Bick, David Dimmock, Tom Fowler, Mark J. Caulfield, Richard H. Scott
Publicado 2020Artigo -
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Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases por Michelle M. Clark, Zornitza Stark, Lauge Farnaes, Tiong Yang Tan, Susan M. White, David Dimmock, Stephen F. Kingsmore
Publicado 2018Artigo -
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A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants por Julie A. Cakici, David Dimmock, Sara Caylor, Mary Gaughran, Christina Clarke, Cynthia Triplett, Michelle M. Clark, Stephen F. Kingsmore, Cinnamon S. Bloss
Publicado 2020Artigo -
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Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions por Lee‐Jun C. Wong, David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter‐Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia, A. Craig Chinault
Publicado 2008Artigo -
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Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech por Elizabeth A. Worthey, Gordana Raca, Jennifer Laffin, Brandon Wilk, Jeremy M. Harris, Kathy J. Jakielski, David Dimmock, Edythe A. Strand, Lawrence D. Shriberg
Publicado 2013Artigo -
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Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing por Stephen F. Kingsmore, Audrey J. Henderson, Mallory Owen, Michelle M. Clark, Christian Holm Hansen, David Dimmock, Christina Chambers, Laura Jeliffe‐Pawlowski, Charlotte A. Hobbs
Publicado 2020Artigo -
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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic por Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan A. Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi L. Rehm
Publicado 2020Artigo -
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A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome por Ran Jing, James Corbett, Jun Cai, Gyda C. Beeson, Craig C. Beeson, Sherine S.L. Chan, David Dimmock, Lynn Lazcares, Aron M. Geurts, John J. Lemasters, Stephen A. Duncan
Publicado 2018Artigo -
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Clinical utility of genomic sequencing: a measurement toolkit por Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan C. Lanpher, Vaidehi Jobanputra, Roberto Mendoza‐Londono, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan A. Ashley
Publicado 2020Revisão -
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Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease por Nathaly M. Sweeney, Shareef Nahas, Shimul Chowdhury, Serge Batalov, Michelle M. Clark, Sara Caylor, Julie A. Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte A. Hobbs, David Dimmock, Stephen F. Kingsmore
Publicado 2021Artigo -
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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders por Kristen Wigby, Deanna Brockman, Gregory Costain, Caitlin L. Hale, Stacie L. Taylor, John W. Belmont, David Bick, David Dimmock, Susan Fernbach, John M. Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft
Publicado 2024Artigo -
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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease por Yoav H. Messinger, Nancy J. Mendelsohn, William J. Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon Jones, Rebecca Olson, Amy White, Cara Wells, Deeksha Bali, Laura E. Case, Sarah P. Young, Amy S. Rosenberg, Priya S. Kishnani
Publicado 2012Artigo -
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Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer por Caleb Bupp, Elizabeth G. Ames, Madison Arenchild, Sara Caylor, David Dimmock, Joseph Fakhoury, Padmani Karna, April Lehman, Cristian Meghea, Vinod K. Misra, Danielle Nolan, John J. O’Shea, Aditi Sharangpani, Linda S. Franck, Andrea Scheurer‐Monaghan
Publicado 2023Artigo
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Medicine
Biology
Gene
Genetics
Internal medicine
Pediatrics
Computer science
Pathology
Computational biology
Disease
Genome
Mutation
Biochemistry
Bioinformatics
Exome sequencing
Intensive care medicine
Whole genome sequencing
Cohort
Genetic testing
Phenotype
Cancer research
Chemistry
Emergency medicine
Immunology
MEDLINE
Randomized controlled trial
Amino acid
Environmental health
Family medicine
Medical diagnosis