Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Guoming Chu"'
Publikováno v:
Reproductive Biology and Endocrinology, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background Kallmann syndrome (KS) is a common type of idiopathic hypogonadotropic hypogonadism. To date, more than 30 genes including ANOS1 and FGFR1 have been identified in different genetic models of KS without affirmatory genotype–pheno
Externí odkaz:
https://doaj.org/article/05ebd8f62d2f462b8aead95ce192f341
Publikováno v:
IEEE Access, Vol 11, Pp 141421-141434 (2023)
In dynamic environments, achieving accurate and robust Visual SLAM (Simultaneous Localization and Mapping) remains a significant challenge, particularly for applications in robotic navigation and autonomous driving. This study introduces YG-SLAM, an
Externí odkaz:
https://doaj.org/article/08acc5e674fc41f6838e9c63be0da0d9
Publikováno v:
PLoS ONE, Vol 18, Iss 10 (2023)
Externí odkaz:
https://doaj.org/article/8f73281bfb3d4c349ecfc01249d3e6b4
Publikováno v:
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Her
Externí odkaz:
https://doaj.org/article/c2fa9b9572be4ebf84e7b9bbd08a10bf
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
Abstract Background Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the preva
Externí odkaz:
https://doaj.org/article/206f8ee9bebf4f479fc485f3a98999bf
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Objective5p deletion syndrome, that characterized by cat-like cry and peculiar timbre of voice, is believed to be one of the most common pathogenic copy number variations (CNVs). Variable critical regions on 5p involving a variety of genes contribute
Externí odkaz:
https://doaj.org/article/1b3e91de9d344b42ba09da52aaf05ed2
Autor:
Tingting Li, Haiquan Sang, Guoming Chu, Yuanyuan Zhang, Manlong Qi, Xiaoliang Liu, Wanting Cui, Yanyan Zhao
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-15 (2020)
Abstract Background Small supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in children or fetuses with hypoevolutism and infertile adults. sSMCs are usually observed firs
Externí odkaz:
https://doaj.org/article/db4ce2f133704cb599aadef28027cd9b
Autor:
Linghui Kong, Guoming Chu, Wei Ma, Jiajian Liang, Dan Liu, Qiushi Liu, Xiaowei Wei, Shanshan Jia, Hui Gu, Yiwen He, Wenting Luo, Songying Cao, Xiaomeng Zhou, Rong He, Zhengwei Yuan
Publikováno v:
Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p939-950, 28p
Publikováno v:
Placenta and Reproductive Medicine. 2
Citrullinemia type 1 (CTLN1) is a rare autosomal recessive urea cycle disorder, without functional argininosuccinate synthase 1 (ASS1), mostly occurring in newborns and infants, but it has been reported as having an adult-onset in carriers of the pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffb7e0ed1d4a853e374d6abad9d0c9e2
https://doi.org/10.54844/prm.2023.0339
https://doi.org/10.54844/prm.2023.0339
Publikováno v:
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-7 (2021)
BMC Pregnancy and Childbirth
BMC Pregnancy and Childbirth
Background Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a74c9e8840640c37b387b362591a6e84
https://doaj.org/article/c2fa9b9572be4ebf84e7b9bbd08a10bf
https://doaj.org/article/c2fa9b9572be4ebf84e7b9bbd08a10bf