Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Michele VanHirtum-Das"'
Autor:
Wendy G. Mitchell, Larry Wang, Jaclyn A. Biegel, Jennifer A. Cotter, Michele VanHirtum-Das, Stefanie M. Thomas, Catherine Quindipan, Matthew Hiemenz, Fariba Navid, Sulagna C. Saitta, Diana J. Moke, Jianling Ji
Publikováno v:
Pediatric neurology. 114
Background Disorders in the PIK3CA-related overgrowth spectrum because of somatic mosaicism are associated with segmental overgrowth of the body in conjunction with vascular, skeletal, and brain malformations such as hemimegalencephaly. A pathogenic
Autor:
Sally L. Davidson Ward, Michele VanHirtum-Das, Tena Rosser, Roberta M. Kato, Rory Kamerman-Kretzmer, Hanna Hong
Publikováno v:
Journal of Clinical Sleep Medicine. 14:1419-1425
There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic channelopathies. We describe an 8-year-...
Autor:
Hanna, Hong, Rory, Kamerman-Kretzmer, Roberta, Kato, Tena, Rosser, Michele, VanHirtum-Das, Sally L, Davidson Ward
Publikováno v:
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 14(8)
There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic channelopathies. We describe an 8-year-old male with a pathogenic UNC80 mutation, intellectu