Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Qiongling Peng"'
Publikováno v:
Heliyon, Vol 10, Iss 9, Pp e30438- (2024)
Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous disease characterized by increased iron deposition in the basal ganglia and progressive degeneration of the nervous system in adulthood. However, in e
Externí odkaz:
https://doaj.org/article/d1455ff6d6124256991246c49e985713
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Abstract Background Coffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenai
Externí odkaz:
https://doaj.org/article/8fc446d3d2d541438e35afb0700a2402
Autor:
Guanting Lu, Yan Zhang, Huiyun Xia, Xiaoyan He, Pei Xu, Lianying Wu, Ding Li, Liya Ma, Jin Wu, Qiongling Peng
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
BackgroundFOXG1-related encephalopathy, also known as FOXG1 syndrome or FOXG1-related disorder, affects most aspects of development and causes microcephaly and brain malformations. This syndrome was previously considered to be the congenital variant
Externí odkaz:
https://doaj.org/article/e28888e7aba24155a7cd249ed08dccd8
Autor:
Qiongling Peng, Yan Zhang, Binqiang Xian, Lianying Wu, Jianying Ding, Wuwu Ding, Xin Zhang, Bilan Ding, Ding Li, Jin Wu, Xiaowu Hu, Guanting Lu
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Wiedemann-Rautenstrauch syndrome (WDRTS) is an extremely rare autosomal recessive neonatal disorder. Currently, over 50 cases with variable phenotypes of WDRTS have been reported. In our cohort of prenatal and postnatal growth retardation, a female p
Externí odkaz:
https://doaj.org/article/aa2eb687cc1f45b1b48f2d6015be93b3
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss 5, Pp 529-535 (2021)
Objective: Studies about the epidemiology and risk factors of late onset of sepsis (LOS) in preterm very low birth weight (PVLBW) infants of developing countries are limited and variable. The objective of this study was to explore the epidemiology, r
Externí odkaz:
https://doaj.org/article/ba60018186744206aa4d76bd3369b2d4
Autor:
Guanting Lu, Liya Ma, Pei Xu, Binqiang Xian, Lianying Wu, Jianying Ding, Xiaoyan He, Huiyun Xia, Wuwu Ding, Zhirong Yang, Qiongling Peng
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a rare syndromic disorder characterized by global neurodevelopmental delay, early-onset hypotonia, poor overall growth, poor speech/language abi
Externí odkaz:
https://doaj.org/article/8b3758d80b5a4dbe8af5d111bf47c45f
Publikováno v:
Frontiers in Human Neuroscience, Vol 15 (2021)
Restricted and repetitive behavior is a core symptom of autism spectrum disorder (ASD) characterized by features of restrictedness, repetition, rigidity, and invariance. Few studies have investigated how restrictedness is manifested in motor behavior
Externí odkaz:
https://doaj.org/article/7d956daede2144ecaa41d1081cec3c60
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss 5, Pp 529-535 (2021)
Objective Studies about the epidemiology and risk factors of late onset of sepsis (LOS) in preterm very low birth weight (PVLBW) infants of developing countries are limited and variable. The objective of this study was to explore the epidemiology, ri
Autor:
Guanting, Lu, Yan, Zhang, Huiyun, Xia, Xiaoyan, He, Pei, Xu, Lianying, Wu, Ding, Li, Liya, Ma, Jin, Wu, Qiongling, Peng
Publikováno v:
Frontiers in molecular neuroscience. 15
FOXG1-related encephalopathy, also known as FOXG1 syndrome or FOXG1-related disorder, affects most aspects of development and causes microcephaly and brain malformations. This syndrome was previously considered to be the congenital variant of Rett sy
Autor:
Jiayi Xing, Jianping Lu, Qiongling Peng, Haiming Tang, Xiaobin Zhang, Xingda Qu, Zhong Zhao, Xinyao Hu, Zhipeng Zhu
Publikováno v:
Autism Research. 14:1197-1208
The present study implemented an objective head pose tracking technique-OpenFace 2.0 to quantify the three dimensional head movement. Children with autism spectrum disorder (ASD) and typical development (TD) were engaged in a structured conversation