Results 211 to 220 of about 518,037 (342)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Nursing informatics: two foundational developments [PDF]

, 2000
Patrícia Flatley Brennan
openalex   +1 more source

Development of core competency evaluation index system for informatics nurses in China: a Delphi study. [PDF]

BMJ Open
Lou X, Wang M, Cao S, Zhang Q, Yao J, Shi Y, Cheng L, Xu X, Ning L, Yang C, Shi T, Wang S.   +11 more
europepmc   +1 more source

GlyGen: Computational and Informatics Resources for Glycoscience.

Glycobiology, 2020
W. York, R. Mazumder, René Ranzinger, Nathan Edwards, Robel Y. Kahsay, Kiyoko F. Aoki-Kinoshita, Matthew P. Campbell, R. Cummings, T. Feizi, Maria Martin, D. Natale, N. Packer, R. Woods, Gaurav Agarwal, S. Arpinar, S. Bhat, J. Blake, Leyla Jael García Castro, Brian C. Fochtman, J. Gildersleeve, R. Goldman, Xavier Holmes, Vinamra Jain, Sujeet Kulkarni, Rupali Mahadik, Akul Y. Mehta, Reza Mousavi, Sandeep Nakarakommula, Rahi Navelkar, N. Pattabiraman, Michael Pierce, K. Ross, Preethi Vasudev, J. Vora, Tatiana Williamson, Wenjin Zhang   +35 more
semanticscholar   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Medical physicists should position themselves as institutional resources in expanding areas such as healthcare informatics and information networking [PDF]

, 2000
Jon H. Trueblood, Kenneth R. Hogstrom, William R. Hendee   +2 more
openalex   +1 more source

AI in Neurology: Everything, Everywhere, all at Once PART 2: Speech, Sentience, Scruples, and Service

Annals of Neurology, EarlyView.
Artificial intelligence (AI) applications are finding use in real‐world neurological settings. Whereas part 1 of this 3‐part review series focused on the birth of AI and its foundational principles, this part 2 review shifts gears to explore more practical aspects of neurological care.
Matthew Rizzo
wiley   +1 more source

Education and Research at the Department of Medical Informatics Maastricht [PDF]

, 2000
Arie Hasman, Jan Talmon
openalex   +1 more source

Information Technology in Nursing Practice: A Scoping Review of Assessment Tools for Evaluating Nurses' Competencies. [PDF]

J Healthc Leadersh
Cachata D, Costa M, Magalhães T, Lucas P, Gaspar F.   +4 more
europepmc   +1 more source

AI in Neurology: Everything, Everywhere, All at Once Part 3: Surveillance, Synthesis, Simulation, and Systems

Annals of Neurology, EarlyView.
This final part 3 review builds on the practical applications discussed in part 2 and explores how artificial intelligence (AI) is transforming data management, neurological education, and neurological care across large healthcare networks and datasets. The review also highlights AI's role in real‐world and synthetic data, digital twins, and innovative
Matthew Rizzo
wiley   +1 more source