The Significance of Family History in the Diagnosis of Hereditary Rare Diseases: A Case Report of Misdiagnosed 1q21.1 Microdeletion Syndrome and Literature Review
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作者:
Yuan, Ke
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Zhejiang Univ, Affiliated Hosp 1, Coll Med, Hangzhou, Peoples R ChinaZhejiang Univ, Affiliated Hosp 1, Coll Med, Hangzhou, Peoples R China
Yuan, Ke
[1
]
Wang, Chunlin
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Zhejiang Univ, Affiliated Hosp 1, Coll Med, Hangzhou, Peoples R ChinaZhejiang Univ, Affiliated Hosp 1, Coll Med, Hangzhou, Peoples R China
Wang, Chunlin
[1
]
机构:
[1] Zhejiang Univ, Affiliated Hosp 1, Coll Med, Hangzhou, Peoples R China
机构:
Istanbul Univ, Istanbul Fac Med, Dept Anesthesiol & Reanimat, Istanbul, TurkeyIstanbul Univ, Istanbul Fac Med, Dept Anesthesiol & Reanimat, Istanbul, Turkey
Cansever, Gul
Uzunturk, Cansu
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Istanbul Univ, Istanbul Fac Med, Dept Anesthesiol & Reanimat, Istanbul, TurkeyIstanbul Univ, Istanbul Fac Med, Dept Anesthesiol & Reanimat, Istanbul, Turkey
Uzunturk, Cansu
Canbolat, Nur
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Istanbul Univ, Istanbul Fac Med, Dept Anesthesiol & Reanimat, Istanbul, TurkeyIstanbul Univ, Istanbul Fac Med, Dept Anesthesiol & Reanimat, Istanbul, Turkey
Canbolat, Nur
JOURNAL OF ACADEMIC RESEARCH IN MEDICINE-JAREM,
2020,
10
(03):
: 306
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308
机构:
Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
Ting-Ting Huang
Hai-Feng Xu
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Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
Hai-Feng Xu
Shang-Yu Wang
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Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
Shang-Yu Wang
Wen-Xin Lin
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机构:
Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
Wen-Xin Lin
Yie-Hen Tung
论文数: 0引用数: 0
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机构:
Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
Yie-Hen Tung
Kaleem Ullah Khan
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Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
Kaleem Ullah Khan
Hui-Hui Zhang
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机构:
Nanjing Medical University
Nanjing Xiaozhuang University Experimental Primary SchoolDepartment of Neurology, Children's Hospital of Nanjing Medical University
Hui-Hui Zhang
Hu Guo
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机构:
Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
Hu Guo
Guo Zheng
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机构:
Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
Guo Zheng
Gang Zhang
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机构:
Department of Neurology, Children's Hospital of Nanjing Medical UniversityDepartment of Neurology, Children's Hospital of Nanjing Medical University
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Huang, Ting-Ting
Xu, Hai-Feng
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Xu, Hai-Feng
Wang, Shang-Yu
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Wang, Shang-Yu
Lin, Wen-Xin
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Lin, Wen-Xin
Tung, Yie-Hen
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Tung, Yie-Hen
Khan, Kaleem Ullah
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Khan, Kaleem Ullah
Zhang, Hui-Hui
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机构:
Nanjing Med Univ, Nanjing 210000, Jiangsu, Peoples R China
Nanjing Xiaozhuang Univ, Expt Primary Sch, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Zhang, Hui-Hui
Guo, Hu
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Guo, Hu
Zheng, Guo
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Zheng, Guo
Zhang, Gang
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Nanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
Nanjing Med Univ, Dept Neurol, Childrens Hosp, 72 Guangzhou Rd, Nanjing 210000, Jiangsu, Peoples R ChinaNanjing Med Univ, Dept Neurol, Childrens Hosp, Nanjing 210000, Jiangsu, Peoples R China
机构:
Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, IndiaManipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India
Upadhyai, Priyanka
Amiri, Eram Fatima
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Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, IndiaManipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India
Amiri, Eram Fatima
Guleria, Vishal Singh
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Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, IndiaManipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India
Guleria, Vishal Singh
Bielas, Stephanie L.
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Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAManipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India
Bielas, Stephanie L.
Girisha, Katta Mohan
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Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, IndiaManipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India
Girisha, Katta Mohan
Shukla, Anju
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Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, IndiaManipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India
机构:
Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Obstet, Guangzhou, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Obstet, Guangzhou, Peoples R China
Liu, Lei
Lei, Tingying
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Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Obstet, Guangzhou, Peoples R China
Lei, Tingying
Guo, Fei
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Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Obstet, Guangzhou, Peoples R China
Guo, Fei
Ma, Chunling
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Southern Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Obstet, Guangzhou, Peoples R China
Ma, Chunling
Zhen, Li
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Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Obstet, Guangzhou, Peoples R China
Zhen, Li
Zhang, Lina
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Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Obstet, Guangzhou, Peoples R China
Zhang, Lina
Li, Dongzhi
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Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R ChinaGuangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Obstet, Guangzhou, Peoples R China
机构:
Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Cadieux-Dion, Maxime
Safina, Nicole P.
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机构:
Childrens Mercy Hosp, Div Clin Genet, Kansas City, MO 64108 USA
Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Safina, Nicole P.
Engleman, Kendra
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Childrens Mercy Hosp, Div Clin Genet, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Engleman, Kendra
Saunders, Carol
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Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USA
Univ Missouri, Sch Med, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Saunders, Carol
Repnikova, Elena
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Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Hosp, Div Clin Genet, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Repnikova, Elena
Raje, Nikita
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Childrens Mercy Hosp, Pediat Allergy Asthma & Immunol Clin, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Raje, Nikita
Canty, Kristi
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Childrens Mercy Hosp, Dermatol Clin, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Canty, Kristi
Farrow, Emily
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Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Hosp, Dept Pediat, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Farrow, Emily
Miller, Neil
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Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Miller, Neil
Zellmer, Lee
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Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Zellmer, Lee
Thiffault, Isabelle
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Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Hosp, Div Clin Genet, Kansas City, MO 64108 USA
Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USAChildrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA