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Frontiers in Genetics|November 4, 2024
Case Report: An association of left ventricular outflow tract obstruction with 5p deletionsKira Mascho, Svetlana A Yatsenko, Cecilia W Lo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and GenomicsPriya S Kishnani, Stephanie L Austin, Jose E Abdenur, et al.Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2010
Glycogen storage disease type III diagnosis and management guidelinesPriya S Kishnani, Stephanie L Austin, Pamela Arn, et al.Journal of the American Heart Association|September 8, 2023
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart DiseaseBenjamin J Landis, Lindsey R Helvaty, Gabrielle C Geddes, et al.Pediatric Cardiology|June 28, 2018
Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan SyndromeArvind Hoskoppal, Shaji Menon, Felicia Trachtenberg, et al.American Heart Journal|April 30, 2013
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapyRonald V Lacro, Lin T Guey, Harry C Dietz, et al.American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.The New England Journal of Medicine|November 19, 2014
Atenolol versus losartan in children and young adults with Marfan's syndromeRonald V Lacro, Harry C Dietz, Lynn A Sleeper, et al.American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.Pageof 3