Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Yongxin Wen"'
Publikováno v:
BMC Medicine, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously. For further study,
Externí odkaz:
https://doaj.org/article/c79c7f5ea2ae48db99af6a7a9dd9088e
Constraining Young Hot Jupiter Occurrence Rate in Stellar Associations Using 2-min Cadence TESS Data
Publikováno v:
Universe, Vol 9, Iss 4, p 192 (2023)
The characterization of young planet distribution is essential for our understanding of the early evolution of exoplanets. Here we conduct a systematic search for young planets from young open clusters and associations using the 2-min cadence TESS su
Externí odkaz:
https://doaj.org/article/b5f1c42eb76f47639d144d51c818157d
Publikováno v:
The Astrophysical Journal Supplement Series, Vol 269, Iss 1, p 28 (2023)
To overcome the high optical extinction, near-infrared (NIR) observations are needed for probing the microlensing events toward the Galactic center. The 2015–2019 UKIRT microlensing survey toward the Galactic center is the first dedicated precursor
Externí odkaz:
https://doaj.org/article/3de7afd99415435c8f8967a6a4f1c7c3
Autor:
Jiaping Wang, Junling Wang, Xiaodi Han, Zhimei Liu, Yanli Ma, Guohong Chen, Haoya Zhang, Dan Sun, Ruifeng Xu, Yi Liu, Yuqin Zhang, Yongxin Wen, Xinhua Bao, Qian Chen, Fang Fang
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations, inherited in autosomal recessive pattern. As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to im
Externí odkaz:
https://doaj.org/article/ff4e4163ba4040d2b7d95d544b3fe4cc
Autor:
Linxia Zhang, Yongxin Wen, Qingping Zhang, Yan Chen, Jiaping Wang, Kaili Shi, Lijun Du, Xinhua Bao
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A muta
Externí odkaz:
https://doaj.org/article/491970207e254006973e823bdccac430
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: The aim of this study was to investigate the genetic and clinical features of dopa-responsive dystonia (DRD) in China.Method: Characteristics of gene mutations and clinical manifestations of 31 patients diagnosed with DRD were analyzed re
Externí odkaz:
https://doaj.org/article/f53f426f919a49de985d44885988fac0
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background MEF2C (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of MEF2C gene mutations. Methods In total, 112 Chinese patients with intellec
Externí odkaz:
https://doaj.org/article/21119a45ae4342078d20f37d0bfab978
Publikováno v:
Clinical Genetics. 98:240-250
The dysfunction of methyl-CpG-binding protein 2 (MeCP2) is associated with several neurological disorders, of which Rett syndrome (RTT) is the most prominent. This study focused on a Chinese patient cohort with MECP2 mutations, and analyzed the chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a374cd6a1ad8d5d2464fce45d319c45
https://doi.org/10.1111/cge.13790
https://doi.org/10.1111/cge.13790
Publikováno v:
J Hum Genet
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare neurotransmitter metabolic disorder caused by DDC gene mutations, which leads to the metabolic disturbance of dopamine and serotonin. Most of the reported cases came from Taiwan China,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd9e9deb95abce20af1ebc53b1fc2422
https://doi.org/10.1038/s10038-020-0770-6
https://doi.org/10.1038/s10038-020-0770-6
Backscatter communication networks have attracted much attention due to their small size and low power waste, but their spectrum resources are very limited and are often affected by link bursts. Channel prediction is a method to effectively utilize t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19761ffab3ae8911347dd67f38da6a36
https://doi.org/10.21203/rs.3.rs-1173737/v1
https://doi.org/10.21203/rs.3.rs-1173737/v1
