Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Yongjia, Yang"'
Publikováno v:
Shipin gongye ke-ji, Vol 45, Iss 14, Pp 318-326 (2024)
In order to investigate the effects of transportation pavement grade on the quality and softening metabolism of winter jujube, this study simulated the actual transportation conditions of winter jujube on high, medium, and low road surfaces through s
Externí odkaz:
https://doaj.org/article/7636009d4a914ecf960e20c5acf462f5
Publikováno v:
IET Cyber-Physical Systems, Vol 8, Iss 3, Pp 149-159 (2023)
Abstract With the emergence of powerful and low‐energy Internet of Things devices, deep learning computing is increasingly applied to resource‐constrained edge devices. However, the mismatch between hardware devices with low computing capacity an
Externí odkaz:
https://doaj.org/article/a5c788d5c9484094b5075979f1abfd52
Autor:
Jihong Guo, Wen-Bin He, Lei Dai, Fen Tian, Zhenqing Luo, Fang Shen, Ming Tu, Yu Zheng, Liu Zhao, Chen Tan, Yongteng Guo, Lan-Lan Meng, Wei Liu, Mei Deng, Xinghan Wu, Yu Peng, Shuju Zhang, Guang-Xiu Lu, Ge Lin, Hua Wang, Yue-Qiu Tan, Yongjia Yang
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100256- (2024)
Summary: In this study, we report on mosaic variegated aneuploidy (MVA) syndrome with tetraploidy and predisposition to infertility in a family. Sequencing analysis identified that the CEP192 biallelic variants (c.1912C>T, p.His638Tyr and c.5750A>G,
Externí odkaz:
https://doaj.org/article/67694e929e9e453aa535bdd7f4b671dc
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: 3M syndrome is a rare autosomal recessive disease, characterized by intrauterine and postnatal growth retardation, facial dysmorphism, large head circumference, and skeletal changes, has rarely been reported in the Chinese population.Meth
Externí odkaz:
https://doaj.org/article/dd2a622cca2844ee882587837e8ece0b
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 variant that causes human disease has been reported. I
Externí odkaz:
https://doaj.org/article/65f479c4428f40cdbe7c0c70426c7039
Autor:
Yu Zheng, Yuming Peng, Shuju Zhang, Hongmei Zhao, Weijian Chen, Yongjia Yang, Zhengmao Hu, Qiang Yin, Yu Peng
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Biallelically mutated MYO5B is associated with microvillus inclusion disease (MVID, MIM: 251850), cholestasis, or both. This study aims at validating the splicing alteration and clinical features of an intron variant for diagnosis.Case Pr
Externí odkaz:
https://doaj.org/article/58c6b7a9f0154f55975c8c9e6e9cbc25
Autor:
Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Abstract Background SMAD6 variants have been reported in patients with radioulnar synostosis (RUS). This study aimed to investigate the genotypes and phenotypes for a large cohort of patients with RUS having mutant SMAD6. Methods Genomic DNA samples
Externí odkaz:
https://doaj.org/article/daa66800ebf74a08a6bb7dd574d9a942
Publikováno v:
Applied Sciences, Vol 13, Iss 5, p 3287 (2023)
Raw image classification datasets generally maintain a long-tailed distribution in the real world. Standard classification algorithms face a substantial issue because many labels only relate to a few categories. The model learning processes will tend
Externí odkaz:
https://doaj.org/article/0feb2911ac2440688b4135e8380d1cde
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)
Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese famil
Externí odkaz:
https://doaj.org/article/850b897199484412ae41ba8cb226297e
Autor:
Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong, Haibo Mei
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 CPT, is not well unde
Externí odkaz:
https://doaj.org/article/346831807edf43799d2a53ef87042fda