Zobrazeno 1 - 10 of 11 pro vyhledávání: '"Nicholas A. Rouse"'
1
The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes
Autor: Bianca Blake, Peter Nagy, Lauren Brady, Nicholas A. Rouse, Mark A. Tarnopolsky
Publikováno v: Journal of Pediatric Genetics.
Whole-genome sequencing (WGS) is being increasingly utilized for the diagnosis of neurological disease by sequencing both the exome and the remaining 98 to 99% of the genetic code. In addition to more complete coverage, WGS can detect structural vari
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c683077f229e4b3d9a091ee326235496
https://doi.org/10.1055/s-0041-1736610
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2
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration
Autor: Dirk Klee, Eva Kildall Hejbøl, Ljubo Markovic, Marica Bakovic, Mark A. Tarnopolsky, Lauren Brady, Vernon W. Dolinsky, Maria Kibaek, Annette Seibt, Prasoon Agarwal, Else Gade, Rami Abou Jamra, Henrik Daa Schrøder, Martin Jakob Larsen, Adrian Taylor, Peter L. Nagy, Dagmar Wieczorek, Felix Distelmaier, Christina Fagerberg, Nicholas A. Rouse
Publikováno v: Fagerberg, C R, Taylor, A, Distelmaier, F, Schrøder, H D, Kibæk, M, Wieczorek, D, Tarnopolsky, M, Brady, L, Larsen, M J, Jamra, R A, Seibt, A, Hejbøl, E K, Gade, E, Markovic, L, Klee, D, Nagy, P, Rouse, N, Agarwal, P, Dolinsky, V W & Bakovic, M 2020, ' Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration ', Brain : a journal of neurology, vol. 143, no. 1, pp. 94-111 . https://doi.org/10.1093/brain/awz376
Cerebral choline metabolism is crucial for normal brain function, and its homoeostasis depends on carrier-mediated transport. Here, we report on four individuals from three families with neurodegenerative disease and homozygous frameshift mutations (
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac0861f3b693c401a937475d42f4898
https://doi.org/10.1093/brain/awz376
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3
Blood group typing from whole-genome sequencing data
Autor: Chistophe Picard, Nicholas A. Rouse, Julien Paganini, Philippe Gouret, Peter L. Nagy, Julie Di Cristofaro, Jacques Chiaroni
Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2020, 15 (11), pp.e0242168. ⟨10.1371/journal.pone.0242168⟩
PLoS ONE, 2020, 15 (11), pp.e0242168. ⟨10.1371/journal.pone.0242168⟩
PLoS ONE, Vol 15, Iss 11, p e0242168 (2020)
Many questions can be explored thanks to whole-genome data. The aim of this study was to overcome their main limits, software availability and database accuracy, and estimate the feasibility of red blood cell (RBC) antigen typing from whole-genome se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ac51e55278ee911aa97ffd98d4fd76
https://pubmed.ncbi.nlm.nih.gov/33180819
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5
Measuring Quality, Evaluating Curricular Change
Autor: Nicholas A. Rouse, Frank Linnehan, Dylan B. Dryer, Christopher Finnin, Scott Warnock
Publikováno v: Journal of Business and Technical Communication. 31:135-167
This article reports the background, methods, and results of a 7-year project (2007–2013) that assessed the writing of undergraduate business majors at a business college. It describes specific issues with writing assessment and how this study atte
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d0a91969615452b2d02f4fee1909d4d4
https://doi.org/10.1177/1050651916682286
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6
A simple tissue-handling technique performed in the endoscopy suite improves histologic section quality and diagnostic accuracy for serrated polyps
Autor: Susan Kornacki, Lawrence B. Cohen, Shannon John Morales, Kenneth M. Miller, Neville D. Bamji, Robert Petras, Tonya Kaltenbach, Roy Soetikno, Robert V. Rouse, Carol A. Bodian, James Aisenberg, Nicholas A. Rouse
Publikováno v: Endoscopy. 45:897-905
Surveillance intervals after colonoscopic resection of serrated polyps are partially predicated on the histology of the polyp(s) removed during the index exam. Histologic discrimination between sessile serrated adenomas/polyps (SSA/P) and hyperplasti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d08eaf62f2531e06517aa27338c9938b
https://doi.org/10.1055/s-0033-1344435
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7
Does Better Specimen Orientation and a Simplified Grading System Promote More Reliable Histologic Interpretation of Serrated Colon Polyps in the Community Practice Setting? Results of a Nationwide Study
Autor: Lukas Makris, Robert V. Rouse, Jennifer M. Kolb, Kathryn Friedman, Roy Soetikno, James Aisenberg, Nicholas A. Rouse, Tonya Kaltenbach, Shannon J. Morales, Neville D. Bamji, Kenneth M. Miller, Jay Desai
Publikováno v: Journal of clinical gastroenterology. 50(3)
Colonoscopic surveillance guidelines for serrated polyps (SPs) are predicated upon the histologic characteristics of the index polyp. However, discrimination between SP subtypes [hyperplastic polyps vs. sessile serrated adenoma/polyps (SSA/P)] is oft
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d124696d1dcc756f4c9d7079cdb9cf77
https://pubmed.ncbi.nlm.nih.gov/26501882
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8
Early Participation in Asynchronous Writing Environments and Course Success
Autor: Dan Driscoll, Kenneth Bingham, Nicholas A. Rouse, Jennifer Fromal, Scott Warnock
Publikováno v: Online Learning. 16
Researchers have documented connections between student motivation/proactive student behavior and academic success. This study investigates if early participation on course message boards is connected with success in online and hybrid courses. Invest
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2be15f42fe0a033c5acdbcbedf5d29f6
https://doi.org/10.24059/olj.v16i1.178
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