Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Journal of Human Genetics|April 1, 2016
WDR45 mutations in three male patients with West syndromeMitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society|September 28, 2011
Comparison of three methods for localizing interictal epileptiform discharges with magnetoencephalographyHideaki Shiraishi, Seppo P Ahlfors, Steven M Stufflebeam, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|July 19, 2020
High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN)Hiroyuki Kidokoro, Hiroyuki Yamamoto, Tetsuo Kubota, et al.
The Journal of Clinical Endocrinology and Metabolism|June 8, 2018
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five PatientsSayaka Kawashima, Akie Nakamura, Takanobu Inoue, et al.
Pediatric Neurology|September 27, 2020
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-PhosphateTomoyuki Akiyama, Yuki Hyodo, Kosei Hasegawa, et al.
American Journal of Medical Genetics. Part A|April 22, 2021
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosisHiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, et al.
Epilepsy Research|May 29, 2013
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacyNorimichi Higurashi, Mai Nakamura, Misaki Sugai, et al.
American Journal of Medical Genetics. Part A|October 3, 2022
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing systemTomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, et al.
American Journal of Human Genetics|February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Pageof 5