Results 211 to 220 of about 8,512,421 (391)

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

PlantDeepSEA, a deep learning-based web service to predict the regulatory effects of genomic variants in plants. [PDF]

Nucleic Acids Res, 2021
Zhao H, Tu Z, Liu Y, Zong Z, Li J, Liu H, Xiong F, Zhan J, Hu X, Xie W.   +9 more
europepmc   +1 more source

Web Sites and Digital Services in Israeli School Libraries: How is a Digital Environment Changing How School Libraries Work?

, 2001
Snunith Shoham, Zehava Shemer-Shalman
openalex   +2 more sources

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Web services in third-generation service platforms [PDF]

, 2002
Ko Lagerberg, Dirk-Jaap Plas, Maarten Wegdam   +2 more
openalex   +1 more source

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto, Emma Wilson, Sue Fletcher‐Watson   +2 more
wiley   +1 more source

Software configuration, distribution, and deployment of web-services [PDF]

, 2002
Rainer Anzböck, Schahram Dustdar, Harald Gall   +2 more
openalex   +1 more source

Varieties of digitalisation? A comparison of employment services digitalisation in the UK and Australia

Australian Journal of Social Issues, EarlyView.
Abstract This article examines the digitalisation of employment services in the UK and Australia, countries that have been on similar policy trajectories with respect to the development of quasi‐markets and increased digitalisation. The article deploys comparative mixed methods comprising surveys of employment service providers and interviews with ...
Jo Ingold, Chris Forde, David Robertshaw
wiley   +1 more source

Experimental Investigation of Precast Prestressed Concrete Inverted Tee Girders with Multiple Web Openings for Service Systems

, 2001
James M. Thompson, Stephen Pessiki
openalex   +1 more source

An Intelligent Web Service System [PDF]

, 2002
S. Suwanapong, Chutiporn Anutariya, V. Wuwongse   +2 more
openalex   +1 more source