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European Journal of Medical Genetics|March 30, 2019
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze populationKarin Weiss, Nina Ekhilevitch, Lior Cohen, et al.
Plos One|August 4, 2012
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephalyErich Roessler, Ping Hu, Sung-Kook Hong, et al.
The Journal of Pediatrics|February 14, 2018
Clinical, Social, and Genetic Factors Associated with Obesity at 12 Months of AgeSahel Hazrati, Wendy S W Wong, Kathi Huddleston, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Evaluation of a Deep Learning and XAI based Facial Phenotyping Tool for Genetic Syndromes: A Clinical User StudyÖmer Sümer, Tobias Huber, Dat Duong, et al.
Npj Aging|May 3, 2025
Assessing large language model performance related to aging in genetic conditionsAmna A Othman, Kendall A Flaharty, Suzanna E Ledgister Hanchard, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Assessing Large Language Model Performance Related to Aging in Genetic ConditionsAmna A Othman, Kendall A Flaharty, Suzanna E Ledgister Hanchard, et al.
Medrxiv : the Preprint Server for Health Sciences|October 4, 2023
Generative Methods for Pediatric Genetics EducationRebekah L Waikel, Amna A Othman, Tanviben Patel, et al.
Journal of the American Academy of Child and Adolescent Psychiatry|June 4, 2008
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditionsMaria T Acosta, F Xavier Castellanos, Kelly L Bolton, et al.
JAMA Network Open|March 15, 2024
Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial IntelligenceRebekah L Waikel, Amna A Othman, Tanviben Patel, et al.
Attention Deficit and Hyperactivity Disorders|March 25, 2011
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolateDeeann Wallis, Mauricio Arcos-Burgos, Mahim Jain, et al.
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