Showing results (61-70 of 74) with videos related to
Sort By:
Pageof 8
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2022
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis reportPriya S Kishnani, David Kronn, Anaïs Brassier, et al.Parkinsonism & Related Disorders|May 29, 2024
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2BNaoto Sugeno, Satoko Kumada, Hirofumi Kashii, et al.Nature Genetics|February 26, 2013
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodHirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, et al.The Journal of Pediatrics|May 31, 2025
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase AlfaDavid Kronn, James Davison, Alexander Broomfield, et al.Parkinsonism & Related Disorders|April 15, 2018
Phenotype variability and allelic heterogeneity in KMT2B-Associated diseaseToshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa, et al.Pediatric Neurology|July 6, 2019
Long-Term Evaluation of Low-Dose Betamethasone for Ataxia TelangiectasiaSetsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, et al.Clinical Genetics|February 9, 2017
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cystsKazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, et al.Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.Journal of Medical Genetics|March 8, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencingKazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, et al.Pageof 8