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Neuroimage|July 5, 2024
Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structureMarlee M Vandewouw, Ami Norris-Brilliant, Anum Rahman, et al.American Journal of Human Genetics|April 21, 2015
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion SyndromeElisabeth E Mlynarski, Molly B Sheridan, Michael Xie, et al.JAMA Network Open|January 26, 2023
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart DiseaseSarah U Morton, Ami Norris-Brilliant, Sean Cunningham, et al.Nature Communications|January 16, 2020
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associationsYun Rose Li, Joseph T Glessner, Bradley P Coe, et al.Nature Genetics|July 1, 2020
Genomic analyses implicate noncoding de novo variants in congenital heart diseaseFelix Richter, Sarah U Morton, Seong Won Kim, et al.Genome Research|July 14, 2009
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applicationsTamim H Shaikh, Xiaowu Gai, Juan C Perin, et al.Proceedings of the National Academy of Sciences of the United States of America|September 17, 2004
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient miceMark Veugelers, David Wilkes, Kimberly Burton, et al.Proceedings of the National Academy of Sciences of the United States of America|March 3, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probandsWeilai Dong, Sheng Chih Jin, Michael C Sierant, et al.Science (New York, N.Y.)|January 20, 2016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJason Homsy, Samir Zaidi, Yufeng Shen, et al.American Journal of Medical Genetics. Part A|November 1, 2018
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaIan M Campbell, Sarah E Sheppard, T Blaine Crowley, et al.Pageof 18