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NEJM AI|July 4, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian DisordersDongxue Mao, Chaozhong Liu, Linhua Wang, et al.
Nature Neuroscience|November 27, 2023
Whole-brain in vivo base editing reverses behavioral changes in Mef2c-mutant miceWei-Ke Li, Shu-Qian Zhang, Wan-Ling Peng, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) geneMaría Del Rocío Pérez Baca, Eva Z Jacobs, Lies Vantomme, et al.
American Journal of Human Genetics|February 27, 2024
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disabilityMaría Del Rocío Pérez Baca, Eva Z Jacobs, Lies Vantomme, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
The Chinese Journal of Dental Research|September 27, 2018
Dental Caries in Chinese Elderly People: Findings from the 4th National Oral Health SurveyYi Bo Gao, Tao Hu, Xue Dong Zhou, et al.
Nature Medicine|May 8, 2023
A deep learning algorithm to predict risk of pancreatic cancer from disease trajectoriesDavide Placido, Bo Yuan, Jessica X Hjaltelin, et al.
Genome Medicine|April 25, 2019
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeClaudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, et al.
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