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Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy
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Nikopoulos, Konstantinos
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Avila-Fernandez, Almudena
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Corton, Marta
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Isabel Lopez-Molina, Maria
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Bontadelli, Lara
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Alessandro Di Gioia, Silvio
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Rivolta, Carlo
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Ayuso, Carmen
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SCIENTIFIC REPORTS,
2015, 5

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h-index:
机构:

Avila-Fernandez, Almudena
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h-index: 0
机构:
UAM, FJD, IIS, Dept Genet,Univ Hosp, Madrid, Spain
ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

Corton, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
UAM, FJD, IIS, Dept Genet,Univ Hosp, Madrid, Spain
ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

Isabel Lopez-Molina, Maria
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h-index: 0
机构:
ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain
Fdn Jimenez Diaz, Univ Hosp, Dept Ophthalmol, E-28040 Madrid, Spain Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

Perez-Carro, Raquel
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h-index: 0
机构:
UAM, FJD, IIS, Dept Genet,Univ Hosp, Madrid, Spain
ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

Bontadelli, Lara
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h-index: 0
机构:
Univ Lausanne, Dept Med Genet, Lausanne, Switzerland Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

Alessandro Di Gioia, Silvio
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h-index: 0
机构:
Univ Lausanne, Dept Med Genet, Lausanne, Switzerland Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

Zurita, Olga
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h-index: 0
机构:
UAM, FJD, IIS, Dept Genet,Univ Hosp, Madrid, Spain
ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

Garcia-Sandoval, Blanca
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h-index: 0
机构:
ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain
Fdn Jimenez Diaz, Univ Hosp, Dept Ophthalmol, E-28040 Madrid, Spain Univ Lausanne, Dept Med Genet, Lausanne, Switzerland

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Ayuso, Carmen
论文数: 0 引用数: 0
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UAM, FJD, IIS, Dept Genet,Univ Hosp, Madrid, Spain
ISCIII, Ctr Invest Biomed Red CIBER Enfermedades Raras, Madrid, Spain Univ Lausanne, Dept Med Genet, Lausanne, Switzerland
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Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families
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Ma, Xiang
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2008, 52 (01)
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Ma, Xiang
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Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China

Li, Xiaoxin
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Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China

Wang, Lihua
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Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China
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Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II
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2014, 81 (02)
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Zheng, Hui
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Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China

Zhang, Zeng
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China
Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Dept Orthoped Surg, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China

He, Jin-Wei
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Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China

Fu, Wen-Zhen
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Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China

Wang, Chun
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China

Zhang, Zhen-Lin
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Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affliated Peoples Hosp 6, Metabol Bone Dis & Genet Res Unit, Dept Osteoporosis & Bone Dis, Shanghai 200233, Peoples R China
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Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
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Gao, Xue
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Gao, Xue
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Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China
Peoples Liberat Army Gen Hosp, Hainan Branch, Dept Otorhinolaryngol, Sanya, Peoples R China
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Su, Yu
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Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China

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Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China

Lu, Yu
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Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China

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Han, Ming-Yu
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Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China
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Yu, Fei
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Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China

Song, Yue-Shuai
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Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China
Peoples Liberat Army Gen Hosp, Hainan Branch, Dept Otorhinolaryngol, Sanya, Peoples R China Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China

Zhu, Qing-Yan
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BGI Shenzhen, Shenzhen, Peoples R China Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China

Wu, Jing
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h-index: 0
机构:
BGI Tianjin, Tianjin, Peoples R China Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China

Dai, Pu
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h-index: 0
机构:
Peoples Liberat Army Gen Hosp, Dept Otorhinolaryngol Head & Neck Surg, Beijing, Peoples R China
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Huang, Chengzi
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机构:
Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
Cent S Univ, Sch Life Sci, Hunan Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 2, Dept Med Genet, Changsha 410011, Hunan, Peoples R China Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China

Long, Xigui
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h-index: 0
机构:
Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
Cent S Univ, Sch Life Sci, Hunan Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China

Peng, Can
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h-index: 0
机构:
Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
Cent S Univ, Sch Life Sci, Hunan Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China

Lin, Pengsiyuan
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h-index: 0
机构:
Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
Cent S Univ, Sch Life Sci, Hunan Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China

Tan, Hu
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h-index: 0
机构:
Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
Cent S Univ, Sch Life Sci, Hunan Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China

Lv, Weigang
论文数: 0 引用数: 0
h-index: 0
机构:
Hunan Jiahui Genet Hosp, Dept Med Genet, Changsha 410078, Hunan, Peoples R China Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China

Wu, Lingqian
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h-index: 0
机构:
Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
Cent S Univ, Sch Life Sci, Hunan Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, Sch Life Sci, Ctr Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
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JOURNAL OF BONE AND MINERAL METABOLISM,
2012, 30 (01)
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Zhang, Zhen-Lin
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Zhang, Hao
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Ke, Yao-hua
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Yue, Hua
论文数: 0 引用数: 0
h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Xiao, Wen-Jin
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Yu, Jin-Bo
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Gu, Jie-Mei
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Hu, Wei-Wei
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Wang, Chun
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

He, Jin-Wei
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China

Fu, Wen-Zhen
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h-index: 0
机构:
Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Metab Bone Dis & Genet Res Unit, Shanghai 200233, Peoples R China
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Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic

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Marik, Ivo
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Ambulant Ctr Defects Locomotor Apparat 1 1 C, Prague, Czech Republic
West Bohemia Univ, Fac Med Studies, Plzen, Czech Republic Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic

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机构:

Martasek, Pavel
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Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic

Mazura, Ivan
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h-index: 0
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h-index: 0
机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases

Hao Zhang
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h-index: 0
机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases

Yao-hua Ke
论文数: 0 引用数: 0
h-index: 0
机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases

Hua Yue
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机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases

Wen-Jin Xiao
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h-index: 0
机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases

Jin-Bo Yu
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h-index: 0
机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases

Jie-Mei Gu
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Wei-Wei Hu
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h-index: 0
机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases

Chun Wang
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h-index: 0
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Jin-Wei He
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h-index: 0
机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases

Wen-Zhen Fu
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;
Al Thuraya, Rula
;
Khalifa, Ola
;
Finsterer, Josef
;
Meyer, Brian F.
;
Al Owain, Mohammed
.
INTERNATIONAL JOURNAL OF DERMATOLOGY,
2016, 55 (06)
:673-679

Wakil, Salma M.
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机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Binamer, Yousef
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King Faisal Specialist Hosp & Res Ctr, Dept Dermatol, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Dossari, Haya
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King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Humaidy, Rawan
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King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Al Thuraya, Rula
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King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

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Finsterer, Josef
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h-index: 0
机构:
Krankenanstalt Rudolfstiftung, Dept Clin Med & Prevent Med, Postfach, Austria King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Meyer, Brian F.
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h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

Al Owain, Mohammed
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h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia