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NPJ Genomic Medicine|July 18, 2023
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DSYingjie Zhao, Yujue Wang, Lijie Shi, et al.American Journal of Obstetrics and Gynecology|September 17, 2023
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of ageLindsay R Freud, Stephanie Galloway, T Blaine Crowley, et al.Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndromeJhih-Rong Lin, Daniella Miller, Dana Luong, et al.Science (New York, N.Y.)|May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.The American Journal of Psychiatry|February 13, 2020
Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric IllnessChristopher R K Ching, Boris A Gutman, Daqiang Sun, et al.Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
The Hidden Architecture of Brain Structural Variability in 22q11.2 Deletion Syndrome: A Multi-site StudyRune Boen, Kathleen P O'Hora, Hoki Fung, et al.Human Brain Mapping|February 22, 2021
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVsIda E Sønderby, Christopher R K Ching, Sophia I Thomopoulos, et al.Molecular Psychiatry|February 5, 2020
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionIsabelle Cleynen, Worrawat Engchuan, Matthew S Hestand, et al.Pageof 14