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JACC. Case Reports|July 28, 2021
A Rare Presentation of Cardiomyopathy in PregnancyElena Donald, Jay Leb, Martin Bialer, et al.The Journal of Emergency Medicine|November 14, 2018
A Cryptic Cause of Cardiac ArrestTanya Mokhateb-Rafii, Martin Bialer, Shaun Rodgers, et al.JPGN Reports|May 19, 2025
Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstructionKanya Ahuja, Shivany Pathania, Nicole Baron, et al.Pediatric Research|September 3, 2015
Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 ySimon A Jones, Martin Bialer, Rossella Parini, et al.Channels (Austin, Tex.)|January 25, 2021
Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effectKim Le Cann, Jannis E Meents, Vishal Sudha Bhagavath Eswaran, et al.Journal of Medical Genetics|July 9, 2016
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaEsther R Berko, Megan T Cho, Christine Eng, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, et al.Neurogenetics|February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathwaysAlex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.Pageof 1