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Pediatric Neurology|May 17, 2014
Vibration therapy tolerated in children with Duchenne muscular dystrophy: a pilot studyKenneth A Myers, Barbara Ramage, Aneal Khan, et al.
JIMD Reports|February 23, 2013
Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatmentKenneth A Myers, Melanie Reeves, Xing-Chang Wei, et al.
Pediatric Neurology|April 18, 2022
De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal AbnormalitiesLyna Siafa, Emanuela Argilli, Elliott H Sherr, et al.
Developmental Medicine and Child Neurology|February 12, 2009
Electroencephalographic abnormalities during sleep in children with developmental speech-language disorders: a case-control studyBronwyn Parry-Fielder, Kevin Collins, John Fisher, et al.
Expert Review of Neurotherapeutics|September 14, 2021
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapiesZimeng Ye, Mark F Bennett, Melanie Bahlo, et al.
Twin Research : the Official Journal of the International Society for Twin Studies|May 2, 2003
A twin study of genetic influences on epilepsy outcomeMichael R Johnson, Roger L Milne, Yvonne Torn-Broers, et al.
American Journal of Medical Genetics. Part A|May 31, 2019
Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathyCheryl Shoubridge, Matilda Jackson, Bronwyn Grinton, et al.
Epilepsia|October 24, 2025
Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC)Dennis J Dlugos, Ingrid E Scheffer, Jacqueline A French, et al.
European Journal of Human Genetics : EJHG|November 25, 2025
Identification of an episignature for the MEF2C-associated syndromeAnanília Silva, Sadegheh Haghshenas, Liselot van der Laan, et al.
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