Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Hanbing Xie"'
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
Abstract Background Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes. Congenital contractural arachnodactyly syndrome (CCA) is an autosomal domin
Externí odkaz:
https://doaj.org/article/204eeba8a5984a32b287603584d62ae8
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Lymphedema is a local form of tissue swelling, which is caused by excessive retention of lymph fluid in interstitial compartment caused by impaired lymphatic drainage damage. Primary lymphedema is caused by developmental lymphatic vascula
Externí odkaz:
https://doaj.org/article/75502509235f4cf686e5d6f4fd93a1a4
Autor:
Qianying Zhao, Bocheng Xu, Qinqin Xiang, Yu Tan, Hanbing Xie, Qianqian Gao, Lingyi Wen, He Wang, Mei Yang, Shanling Liu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Background Short‐rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, and individuals with either syndrome can manifest cerebellar malformation and variable developmental delays. However, neither of these
Externí odkaz:
https://doaj.org/article/747ef8f32f524361b9c843ad4b2afcdb
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-8 (2022)
Abstract Background Oculocutaneous albinism (OCA) is a group of heterogeneous genetic diseases characterized by a reduction or complete lack of pigmentation in the hair, skin, and eyes. It is associated with reduced visual acuity, nystagmus, photopho
Externí odkaz:
https://doaj.org/article/7c66af441edc4399b5431a089d995b0d
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Background Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC‐Kb, and is characterized by renal salt wasting, hypokalemi
Externí odkaz:
https://doaj.org/article/62773c4bd4a34284b58cb84555622736
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a novel p.(Phe1583Leufs*
Externí odkaz:
https://doaj.org/article/0fae4972e65f43dc81b6bf09252bce3c
Autor:
Mengya Pang, Guoliang Sun, Weifeng Yao, Shaoli Zhou, Ning Shen, Haofeng Liao, Hanbing Xie, Wanling Gao, Mian Ge
Publikováno v:
BMC Anesthesiology, Vol 21, Iss 1, Pp 1-10 (2021)
Abstract Background To investigate whether transmuscular quadratus lumborum block (TQLB) combined with oxycodone-based patient-controlled intravenous analgesia (PCIA) compared with sufentanil-based patient-controlled intravenous analgesia could reduc
Externí odkaz:
https://doaj.org/article/666e5cd9ec244597bcdbcffbc14f93a9
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Autosomal recessive non-syndromic deafness-28 (DFNB28) is characterized by prelingual, profound sensorineural hearing loss (HL). The disease is related to variants of the TRIOBP gene. TRIO and F-actin binding protein (TRIOBP) plays crucial roles in m
Externí odkaz:
https://doaj.org/article/916ef4ff7af94c7dbdbe0a9469e6bbf1
Autor:
Jing Wang, Lin Chen, Cong Zhou, Li Wang, Hanbing Xie, Yuanyuan Xiao, Daishu Yin, Yang Zeng, Feng Tang, Yunyuan Yang, Hongmei Zhu, Xinlian Chen, Qian Zhu, Zhiying Liu, Hongqian Liu
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-7 (2018)
Abstract A prospective analysis investigating the associations between pathogenic copy number variations (pCNVs) and ultrasound soft markers (USMs) in fetuses and evaluating the clinical value of copy number variation sequencing (CNV-seq) in such pre
Externí odkaz:
https://doaj.org/article/c04a9775f08a4724ba2f2486a69aa05e
Publikováno v:
ACS Omega. 8:3176-3183
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9899fa7d29cf513eb3d77e133cea2c1
https://doi.org/10.1021/acsomega.2c06600
https://doi.org/10.1021/acsomega.2c06600