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Neurodevelopmental Delays: A Review on Integration Between WES, WGS and AI Guided Accelerated and Precise Diagnosis

Author:Vadhavekar, Nidhi   Misra, Garima   Palakodeti, Sanjana   Walia, Sanya   Kankariya, Samrudhi   Muzaffer, Raveen   

Session Name:P7: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P7.001  

Author Institution:Padmashree Dr. D. Y. Patil School of Medicine, Mumbai, India  ESIC Medical College, Hyderabad, India  Kamineni Institute of Medical Sciences, Hyderabad, India  Government Institute of Medical Sciences, Noida, India  Smt Kashibai Navale Medical college and general hospital, Pune, India  Dow University of Health Sciences, Pakistan  

Molar Tooth and the Liver : A Curious Case of COACH Syndrome

Author:V, ANAND   Chatterjee, Trisha   Panda, Samhita   Luniwal, Hemant   Tiwari, Sarbesh   

Session Name:P7: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P7.002  

Author Institution:ALL INDIA INSTITUTE OF MEDICAL SCIENCES, JODHPUR, INDIA, JODHPUR, RAJASTHAN, India  ALL INDIA INSTITUTE OF MEDICAL SCIENCES, JODHPUR, INDIA, JODHPUR, India  

Novel GTPBP2 Mutation-associated Jaberi Elahi Syndrome – A Rare Cause of Syndromic Epilepsy

Author:Vedula, Apoorva   Reddy, Suresh   Patel, Apurva   Konanki, Ramesh   

Session Name:P7: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P7.003  

Author Institution:Osmania Medical College, Hyderabad, India  Osmania Medical College, Bangalore, India  Medical University of South Carolina, Charleston, SC  Rainbow Children'S Hospital, Hyderabad, India  

Ataxia with Vitamin E Deficiency (AVED)- A mimicker not to miss

Author:Blanchard, Nia   Chandler, Erika   

Session Name:P7: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P7.004  

Author Institution:University of Louisville School of Medicine, Louisville, KY  University of Louisville Child Neurology, Louisville, KY  

Not-so-adult Onset Krabbe Disease in a Toddler

Author:Tiwari, Aditi   Khambadkone, Seva   Regner, Michael   Dennis, Anna   Yang, Amy   Kripps, Kimberly   Xiang, Xinran   

Session Name:P7: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P7.005  

Author Institution:Oregon Health & Science University, Portland, OR