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Pediatric Research|December 18, 2014
Hyperactivity in the Gunn rat model of neonatal jaundice: age-related attenuation and emergence of gait deficitsJohn A Stanford, Jeffrey M Shuler, Stephen C Fowler, et al.
Pediatric Research|September 9, 2023
Predictive and diagnostic measures for kernicterus spectrum disorder: a prospective cohort studyRose Gelineau-Morel, Fatima Usman, Saadatu Shehu, et al.
Journal of Telemedicine and Telecare|November 13, 2020
Barriers, access and management of paediatric epilepsy with telehealthKari Gali, Sucheta Joshi, Sarah Hueneke, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyElisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesAna S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, et al.
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