Results 1 to 10 of about 1,113 (147)

NUP155 基因突变与不明原因夜间猝死综合征及心律失常的关联性 [PDF]

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2020
【目的】研究中国汉族人群不明原因夜间猝死综合征(SUNDS)及心律失常病例中是否存在NUP155基因突变,并分析SUNDS及心律失常与NUP155基因突变的相关性。【方法】收集40例SUNDS案例和30例临床心律失常患者的外周血样本分别作为SUNDS组和临床组,以千人基因组数据库(1000Genomes)与ExAC数据库中东亚人群作为人群对照组。应用基因芯片测序和Sanger测序对收集到的70例样本进行NUP155基因变异检测,通过Pearson卡方检验或Fisher′s精确检验(α=0.05 ...
任涵   +4 more
doaj   +2 more sources

细胞毒性T 淋巴细胞相关抗原4 基因型与中国南方人群Graves ’ 病的关系 [PDF]

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2005
【目的】探讨细胞毒性T淋巴细胞相关抗原-4(cytotoxic T lymphocyte associated antigen 4)基因第一外显子A/G(49)多态性与中国南方汉族人群Graves′病的关系。【方法】用PCR-RFLP确定CTLA-4基因第1外显子49位点基因型,分析广东地区汉族人Graves′病患者(GD组)120例及123名正常人(对照组)CTLA-4基因多态性。并把GD患者按性别、家族史、TRAb、突眼等分别分两亚组后分析CTLA-4基因第1外显子A49G位点基因型及等位基因的频率。
姚斌   +4 more
doaj   +2 more sources

SNP Panel Analysis of Ancestry Inference in East Asian Populations [PDF]

open access: yes, 2021
Objective To develop an SNP Panel for East Asian population, which has a high individual identification rate and the capability of ancestry analysis. Methods The 55 SNP Panel by Professor KIDD of Yale University and the 128 SNP Panel by Professor SELDIN ...
JIA Zhen-jun, GAO Chun-fang, QIAN Zun-lei, et al.
core   +1 more source

Polymorphisms of 19 Autosomal STR Loci in Sichuan Han Population and Their Forensic Application [PDF]

open access: yes, 2020
Objective To investigate the allele distribution, population genetics parameters and genetic analysis of neighboring populations of 19 autosomal STR loci in Sichuan Han population, and to evaluate their forensic application value. Methods The Goldeneye??
HUANG Yun, WANG Yu-zhuo, SONG Feng
core   +1 more source

Traceability of Geographic Origin Using Human Skin and Oral Microbiota [PDF]

open access: yes, 2023
Objective To explore the possibility of using human skin and oral microorganisms to estimate the geographic origin of an individual through the sequencing analysis of bacterial 16S rRNA gene.
Xin-yu DONG, Ru-xin ZHU, Yin-lei LEI, Rui-yang TAO, Cheng-tao LI
core   +1 more source

Identification Strategy of Biological Half Sibling Relationship [PDF]

open access: yes, 2023
Objective To compare the application value of the likelihood ratio (LR) method and identity by state (IBS) method in the identification involving half sibling relationships, and to provide a reference for the setting of relevant standards for ...
Zheng TAN, Guan-ju MA, Li-hong FU, Xiao-jing ZHANG, Qian WANG, Guang-ping FU, Qing-qing DU, Shu-jin LI
core   +1 more source

Estimation of Sex from Patella Measurements in Sichuan Han Population Based on CT-Three-Dimensional Volume Reconstruction Technique [PDF]

open access: yes, 2020
Objective To estimate sex based on patella measurements of Sichuan Han population by computed tomography three-dimensional volume reconstruction technique, and to explore the application value of patella in sex estimation.
ZHAN Meng-jun , LI Ming, LI Chun-lin , et al.
core   +1 more source

Analysis of Genetic Polymorphism and Genetic Distance of 19 Autosomal STR Loci in Jiangsu Han Population [PDF]

open access: yes, 2018
Objective To investigate the distribution of alleles in 19 autosomal short tandem repeat (STR) loci in Jiangsu Han population. Methods Goldeneye?? 20A kit was used to detect 9 025 samples. Genetic analysis was performed on typing data of 19 autosomal STR
PAN Meng, CUI He, JU Xiao-bin,et al.
core   +1 more source

International clinical practice recommendations on the definition, diagnosis, assessment, intervention, and psychosocial aspects of developmental coordination disorder – Chinese (Mandarin) translation

open access: yesDevelopmental Medicine &Child Neurology, Volume 61, Issue 3, Page E1-E35, March 2019., 2019
目的 本国际临床指南由欧洲残疾儿童学会(the European Academy of Childhood Disability,EACD)牵头制定,旨在解决发育性协调障碍(developmental coordination disorder,DCD)的定义、诊断、评估、干预以及与社会心理方面的临床应用关键问题。 方法 本指南针对五个领域的关键问题,通过文献综述和专家团队的正式讨论达成共识。为保证指南的循证基础,以“机制”、“评估”和“干预”为检索词, 对2012年更新以来提出的最新建议以及新增的“社会心理问题”和“青少年/成人”为检索词进行检索。根据牛津大学循证医学中心证据等级 (证据水平 [level of evidence, LOE]1–4) 将结果进行分类,最终转化为指南建议。并由国际 ...
Jing Hua   +6 more
wiley   +1 more source

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