Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Seizures and TPP1[original query] |
---|
Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. Seizure 2019 5 69 180-185. Chen Zi-Rong, Liu De-Tian, Meng Heng, Liu Liu, Bian Wen-Jun, Liu Xiao-Rong, Zhu Wei-Wen, He Yong, Wang Jie, Tang Bin, Su Tao, Yi Yong-Ho |
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. Molecular genetics & genomic medicine 2020 5 8 (7): e1228. Kozina Anastasiya A, Okuneva Elena G, Baryshnikova Natalia V, Kondakova Olga B, Nikolaeva Ekaterina A, Fedoniuk Inessa D, Mikhailova Svetlana V, Krasnenko Anna Y, Stetsenko Ivan F, Plotnikov Nikolay A, Klimchuk Olesia I, Popov Yaroslav V, Surkova Ekaterina I, Shatalov Peter A, Rakitko Alexander S, Ilinsky Valery |
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: