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检索条件"主题词=syndromic"
23 条 记 录,以下是1-10 订阅
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A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea
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World Journal of Pediatrics 2022年 第12期18卷 861-865页
作者: Xian-Xu Zhang Xi Chen Wei Zhou Vasilis Caesar Mavratsas Yang-Yang Xiao Xin-Rui Tan Song-Jia Zheng Xing-Xing Zhang Department of Pediatrics the Second Xiangya HospitalCentral South UniversityChangsha410011China Wuhan Primbio Medical Laboratory Wuhan430075China University of Texas Medical Branch School of Medicine GalvestonTX77555USA
Congenital sodium diarrhea(CSD)is a monogenic disordercausedby specific geneticdefects that increase sodium content in the stool,resulting in intractable *** disease was first reported by Holmberg in 1985[1].Fewerthan... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论
Social network analysis and modeling of cellphone-based syndromic surveillance data for ebola in Sierra Leone
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Asian Pacific Journal of Tropical Medicine 2016年 第9期9卷 829-833页
作者: Jia B Kangbai Department of Epidemiology College of Public Health University of Kentucky
Objective:To explore and visualize the connectivity of suspected Ebola cases and surveillance callers who used cellphone technology in Moyamba District in Sierra Leone for Ebola surveillance,and to examine the demogra... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论
Acquired immunity and asymptomatic reservoir impact on frontline and airport ebola outbreak syndromic surveillance and response
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Infectious Diseases of Poverty 2014年 第1期3卷 375-384,374页
作者: Ernest Tambo Zhou Xiao-Nong Sydney Brenner Institute for Molecular Bioscience School of Medical Sciences&School of Public HealthUniversity of the WitwatersrandJohannesburgSouth Africa Chinese Center for Disease Control and Prevention National Institute of Parasitic DiseasesShanghai 200025People’s Republic of China WHO Collaborating Centre for Malaria Schistosomiasis and FilariasisKey Laboratory of Parasite and Vector BiologyMinistry of HealthShanghai 200025People’s Republic of China Département de Biochimie et Science Pharmaceutiques Universitédes MontagnesBagangtéRépublique du Cameroun
The number of surveillance networks for infectious disease diagnosis and response has been *** 2000,the World Health Organization(WHO)established the Global Outbreak Alert and Response Network,which has been endorsed ... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论
Phenotypical Aspects of a Familial syndromic Retinitis Pigmentosa
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Open Journal of Ophthalmology 2024年 第2期14卷 168-173页
作者: Irma Eneida Dos Santos Joseph Matar Mass Ndiaye Mariama Diambone Badji Alioune Abdoulaye Ndongo Gerauld Akpo Jean Pierre Diagne Gabriel Karold Mendy Mouhamed Attye Aboubacry Sadikh Sow Elhadji Amadou Ba Paule Aida Ndoye Roth Ophthalmology Department of Aristide Le Dantec Hospital Dakar Senegal Pediatric Department of Aristide Le Dantec Hospital Dakar Senegal Radiological Imaging Department of Aristide Le Dantec Hospital Dakar Senegal Ophthalmology Department of Abass Ndao Hospital Dakar Senegal
Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of ... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论
CLINICAL SIMULATED EXPERIMENT ON syndromic STANDARDS OF PULMONARY SYSTEM DISEASES
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Chinese Journal of Biomedical Engineering(English Edition) 1993年 第4期2卷 179-179页
作者: Mulin Xu Luoyu Road,Wuban 40074,China
Clinical simulated experiment (CSE) is an intermediate experiment in clinic withmodern functional *** Chinese Medicine (TCM) has a long histo-ry with an unique system of medical theory which has not been standardized ... 详细信息
来源: 维普期刊数据库 维普期刊数据库 同方期刊数据库 同方期刊数据库 评论
Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft
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Protein & Cell 2024年 第10期15卷 783-789页
作者: Huaxiang Zhao Wenjie Zhong Wenbin Huang Guozhu Ning Jieni Zhang Mengqi Zhang Peiqi Meng Yunfan Zhang Qian Zhang Hongping Zhu Gulibaha Maimaitili Yi Ding Weiran Li Wei Liang Zhibo Zhou Qiang Wang Feng Chen Jiuxiang Lin Department of Orthodontics Peking University School and Hospital of StomatologyBeijing 100081China Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research College of StomatologyXi'an Jiaotong UniversityXi'an 710049China College of Stomatology Chongqing Medical UniversityChongqing Key Laboratory of Oral Diseases and Biomedical SciencesChongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher EducationChongqing 400016China Department of Orthodontics Stomatological CenterPeking University Shenzhen HospitalShenzhen Peking University-The Hong Kong University of Science and Technology Medical CenterShenzhen 518036China Affliated Hospital of Guangdong Medical University&Zhanjiang Key Laboratory of Zebrafish Model for Development and Disease Guangdong Medical UniversityZhanjiang 524023China National Center of Stomatology National Clinical Research Center for Oral DiseasesNational Engineering Laboratory for Digital and Material Technology of StomatologyBeijing Key Laboratory for Digital StomatologyResearch Center of Engineering and Technology for Computerized Dentistry Ministry of HealthNMPA Key Laboratory for Dental MaterialsBeijing 100191China Central Laboratory Peking University School and Hospital of StomatologyBeijing 100081China Department of Oral and Maxillofacial Surgery Peking University School and Hospital of StomatologyBeijing 100191China The Second Affiliated Hospital of Xinjiang Medical University and Xinjiang Key Laboratory of Neurological Disorder Research Urumqi 830028China Department of Physiology and Pathophysiology School of Basic Medical SciencesXi'an Jiaotong UniversityXi'an 710049China Innovation Centre of Ministry of Education for Development and Diseases Sixth Affliated HospitalSchool of MedicineSouth China University of TechnologyGuangzhou 511442China
Dear Editor,Orofacial cleft(OFC),which includes cleft lip and/or palate(CL/P)and cleft palate(CP),is the most common congenital craniofacial structural disorder,with a prevalence of 1.416%。among live infants worldwid... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论
Polydactyly:Clinical and molecular manifestations
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World Journal of Orthopedics 2023年 第1期14卷 13-22页
作者: Zisis Kyriazis Panagoula Kollia Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou Zoe H Dailiana Department of Orthopaedic Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Department of Genetics and Biotechnology Faculty of BiologyUniversity of AthensAthens 15701Greece Department of Paediatrics Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Laboratory of Histology and Embryology Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece
Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or *** is considered to be one of the most common inherited hand ... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论
Etiology Profile of the Patients Implanted in the Cochlear Implant Program
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International Journal of Otolaryngology and Head & Neck Surgery 2015年 第3期4卷 265-272页
作者: Saroj Mali Divij Sonkhya Mohnish Grover Nishi Sonkhya Department of ENT SMS Medical College and Hospital Jaipur India
Hearing loss in children constitutes a considerable handicap because it is an invisible disability and compromises optimal development and personal achievement of a child. The period from birth to 5 years of life is c... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论
Enhanced Public Health Surveillance for the Sixth Worldwide Uchinanchu Festival Conducted by the Okinawa Prefectural Government, Japan
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Journal of Biosciences and Medicines 2017年 第9期5卷 106-115页
作者: Munesada Yamakawa Miyuki Yamauchi Minoru Nidaira Tomoyuki Azuma Tadashi Nakasone Fumie Ando Takahiro Hayamizu Saki Kinjo Yuuki Nakamura Regional Public Health Division Department of Public Health and Medical Care Okinawa Prefectural Government Okinawa Japan Naha City Public Health Center Okinawa Japan Graduate School of Pharmacy Nihon University Chiba Japan
Objective: The Okinawa prefectural government conducted enhanced surveillance for the Sixth Worldwide Uchinanchu Festival, with participation of more than 5300 visitors from abroad, many of whom were Okinawan or of Ok... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论
CLINICAL SIMULATED EXPERIMENT ON THE SYNDROMI STANDARDS OF PULMONARY SYSTEM DISEASES
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Chinese Journal of Biomedical Engineering(English Edition) 1994年 第2期3卷 80-88页
作者: Mulin Xu Qiouqin Wang(Hubei Academy of Traditional Chinese Medicine232 Luoyu Road, Wuhan, 430074, China)
CLINICALSIMULATEDEXPERIMENTONTHESYNDROMISTANDARDSOFPULMONARYSYSTEMDISEASESMulinXuQiouqinWang(HubeiAcademyofT... 详细信息
来源: 维普期刊数据库 维普期刊数据库 同方期刊数据库 同方期刊数据库 评论