Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Fangyun Liu"'
Autor:
Wen Zhang, Dong Li, Nan Pang, Li Jiang, Baomin Li, Fanghua Ye, Fang He, Shimeng Chen, Fangyun Liu, Jing Peng, Jinghua Yin, Fei Yin
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveAlthough many unexplained intellectual disability/global developmental delay (ID/GDD) individuals have benefited from the excellent detection yield of copy number variations and next-generation sequencing testing, many individuals still who
Externí odkaz:
https://doaj.org/article/6f5c8f444d9e48dc9d62bc00d482e0b5
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channel plays a critical role in regulating the resting membrane potential and integrating synaptic transmission. Variants of HCN1 have been recognized as causes of epilepsy, and mutant HCN1 c
Externí odkaz:
https://doaj.org/article/569c21a43f96427b849efdf657844807
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectiveThe limitations of adrenocorticotrophic hormone (ACTH) treatment for infantile spasms (ISs), such as high costs, limited availability, and adverse effects (AEs), make it necessary to explore whether corticosteroids are optimal alternatives.
Externí odkaz:
https://doaj.org/article/2adc85a998994902a3a63bf4f8548e01
Publikováno v:
Molecular Neurobiology. 59:5056-5069
Dominant TUBB4A variants result in different phenotypes, including hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), dystonia type 4 (DYT4), and isolated hypomyelination. Here, we report four new patients with a novel TUBB4A v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::645aa9e07709699608327b9f59f1a091
https://doi.org/10.1007/s12035-022-02900-9
https://doi.org/10.1007/s12035-022-02900-9
Autor:
Xiaole Wang, Baiyang You, Fei Yin, Chen Chen, Hailan He, Fangyun Liu, Zou Pan, Xiaoyuan Ni, Nan Pang, Jing Peng
Publikováno v:
Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91bafee911b7c2393143eb7e045d5d1e
https://doi.org/10.1038/s10038-023-01128-2
https://doi.org/10.1038/s10038-023-01128-2
Publikováno v:
Experimental and Therapeutic Medicine. 25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12f1d104420fca0aabcd2b90ff617710
https://doi.org/10.3892/etm.2023.11792
https://doi.org/10.3892/etm.2023.11792
Publikováno v:
Open Medicine
Open Medicine, Vol 15, Iss 1, Pp 65-70 (2020)
Open Medicine, Vol 15, Iss 1, Pp 65-70 (2020)
Germ cell tumors (GCTs) localized extragonadally are rare, with only 14 reported cases of a yolk sac tumor in the endometrium. Here we report a case of mixed endometrium GCTs in a 65-year-old postmenopausal woman with abnormal vaginal bleeding. An ul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754243f2fcaa75b2dad2741ac001ef50
http://europepmc.org/articles/PMC7005913
http://europepmc.org/articles/PMC7005913
Autor:
Changning, Xie, Fangyun, Liu, Hailan, He, Fang, He, Leilei, Mao, Xiaole, Wang, Fei, Yin, Jing, Peng
Publikováno v:
Frontiers in molecular neuroscience. 15
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channel plays a critical role in regulating the resting membrane potential and integrating synaptic transmission. Variants of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0579982029112550c0de3f89ebc3970f
https://pubmed.ncbi.nlm.nih.gov/35845605
https://pubmed.ncbi.nlm.nih.gov/35845605
Autor:
Yu-Ning Huang, Anushka Rajesh, Ram Ayyala, Aditya Sarkar, Ruiwei Guo, Elizabeth Ling, Irina Nakashidze, Man Yee Wong, Jieting Hu, Dottie Yu, Qiushi Peng, Grace Scheg, Khooshbu Kantibhai Patel, Tejasvene Ramesh, Ke Wang, Anushka Yadav, Fangyun Liu, Jay Himanshu Mehta, Grigore Boldirev, Alexey Nosov, Yutong Chang, Malak S. Abedalthagafi, Serghei Mangul
The scientific community has accumulated enormous amounts of genomic data stored in specialized public repositories. Genomic data is easily accessible and available from public genomic repositories allowing the biomedical community to effectively sha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95a0b136335a7630f2f612cc38181663
https://doi.org/10.1101/2021.11.22.469640
https://doi.org/10.1101/2021.11.22.469640
Autor:
Miriam Kessi, Yulin Tang, Jing Peng, Fangyun Liu, Fei Yin, Yalan Zhan, Ciliu Zhang, Lifen Yang, Liwen Wu
Publikováno v:
Seizure. 79
Background Febrile infection-related epilepsy syndrome is associated with high mortality and morbidity rates. No systematic review of demographics, aetiologies, good treatment options, and causes of deaths has been performed. Thus, we aimed to focus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f43b1cdf6385c8be8e8a911fe39e7b
https://pubmed.ncbi.nlm.nih.gov/32417686
https://pubmed.ncbi.nlm.nih.gov/32417686