共 50 条
[41]
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta
[J].
El-Gazzar, Ahmed
;
Mayr, Johannes A.
;
Voraberger, Barbara
;
Brugger, Karin
;
Blouin, Stephane
;
Tischlinger, Katharina
;
Duba, Hans-Christoph
;
Prokisch, Holger
;
Fratzl-Zelman, Nadja
;
Hoegler, Wolfgang
.
BONE REPORTS,
2021, 15

El-Gazzar, Ahmed
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Mayr, Johannes A.
论文数: 0 引用数: 0
h-index: 0
机构:
Paracelsus Med Univ Salzburg, Univ Hosp Salzburg, Dept Paediat, Salzburg, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Voraberger, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Brugger, Karin
论文数: 0 引用数: 0
h-index: 0
机构:
Paracelsus Med Univ Salzburg, Univ Hosp Salzburg, Dept Paediat, Salzburg, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Blouin, Stephane
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp OEGK, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, AUVA Trauma Ctr Meidling, Med Dept 1, Vienna, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Tischlinger, Katharina
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Duba, Hans-Christoph
论文数: 0 引用数: 0
h-index: 0
机构:
Kepler Univ Hosp, Inst Med Genet, Med Campus 4, Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Prokisch, Holger
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Munich, Germany
Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Fratzl-Zelman, Nadja
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp OEGK, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, AUVA Trauma Ctr Meidling, Med Dept 1, Vienna, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria

Hoegler, Wolfgang
论文数: 0 引用数: 0
h-index: 0
机构:
Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria Johannes Kepler Univ Linz, Dept Paediat & Adolescent Med, Krankenhausstr 7a, A-4020 Linz, Austria
[42]
Novel MSH2 splice-site mutation in a young patient with Lynch syndrome
[J].
Liccardo, Raffaella
;
De Rosa, Marina
;
Izzo, Paola
;
Duraturo, Francesca
.
MOLECULAR MEDICINE REPORTS,
2018, 17 (05)
:6942-6946

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论文数: 引用数:
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[43]
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
[J].
Berry, Vanita
;
Pontikos, Nikolas
;
Dudakova, Lubica
;
Moore, Anthony T.
;
Quinlan, Roy
;
Liskova, Petra
;
Michaelides, Michel
.
OPHTHALMIC GENETICS,
2020, 41 (02)
:131-134

Berry, Vanita
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Inst Ophthalmol, London, England UCL, UCL Inst Ophthalmol, London, England

Pontikos, Nikolas
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp NHS Fdn Trust, Dept Genet, London, England UCL, UCL Inst Ophthalmol, London, England

Dudakova, Lubica
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Res Unit Rare Dis, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic UCL, UCL Inst Ophthalmol, London, England

Moore, Anthony T.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Inst Ophthalmol, London, England
Univ Calif San Francisco, Ophthalmol Dept, San Francisco, CA 94143 USA UCL, UCL Inst Ophthalmol, London, England

Quinlan, Roy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Durham, Sch Biol & Med Sci, Durham, England UCL, UCL Inst Ophthalmol, London, England

Liskova, Petra
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Res Unit Rare Dis, Prague, Czech Republic
Gen Univ Hosp, Prague, Czech Republic
Charles Univ Prague, Fac Med 1, Dept Ophthalmol, Prague, Czech Republic UCL, UCL Inst Ophthalmol, London, England

Michaelides, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Inst Ophthalmol, London, England
Moorfields Eye Hosp NHS Fdn Trust, Dept Genet, London, England UCL, UCL Inst Ophthalmol, London, England
[44]
A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME
[J].
Baksiene, M.
;
Benusiene, E.
;
Morkuniene, A.
;
Ambrozaityte, L.
;
Utkus, A.
;
Kucinskas, V
.
BALKAN JOURNAL OF MEDICAL GENETICS,
2016, 19 (02)
:95-99

Baksiene, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania
Vilnius Univ, Dept Human & Med Genet, Santariskiu Str 2, LT-08861 Vilnius, Lithuania Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania

Benusiene, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania
Vilnius Univ, Dept Human & Med Genet, Santariskiu Str 2, LT-08861 Vilnius, Lithuania Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania

Morkuniene, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania
Vilnius Univ, Dept Human & Med Genet, Santariskiu Str 2, LT-08861 Vilnius, Lithuania Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania

Ambrozaityte, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania
Vilnius Univ, Dept Human & Med Genet, Santariskiu Str 2, LT-08861 Vilnius, Lithuania Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania

Utkus, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania
Vilnius Univ, Dept Human & Med Genet, Santariskiu Str 2, LT-08861 Vilnius, Lithuania Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania

Kucinskas, V
论文数: 0 引用数: 0
h-index: 0
机构:
Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania
Vilnius Univ, Dept Human & Med Genet, Santariskiu Str 2, LT-08861 Vilnius, Lithuania Vilnius Univ Hosp Santariskiu Klin, Ctr Med Genet, Vilnius, Lithuania
[45]
Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene
[J].
Chak, WL
;
To, KF
;
Cheng, YL
;
Tsui, KM
;
Lo, KW
;
Tong, HM
;
Lai, FMM
;
Wong, FKM
;
Choi, KS
;
Chau, KF
;
Li, CS
.
NEPHRON,
2002, 91 (03)
:526-529

Chak, WL
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

To, KF
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Cheng, YL
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Tsui, KM
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Lo, KW
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Tong, HM
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Lai, FMM
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Wong, FKM
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Choi, KS
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Chau, KF
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China

Li, CS
论文数: 0 引用数: 0
h-index: 0
机构: Queen Elizabeth Hosp, Dept Med, Hong Kong, Hong Kong, Peoples R China
[46]
Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability
[J].
Kawarai, Toshitaka
;
Montecchiani, Celeste
;
Miyamoto, Ryosuke
;
Gaudiello, Fabrizio
;
Caltagirone, Carlo
;
Izumi, Yuishin
;
Kaji, Ryuji
;
Orlacchio, Antonio
.
JOURNAL OF THE NEUROLOGICAL SCIENCES,
2017, 380
:92-97

论文数: 引用数:
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机构:

Montecchiani, Celeste
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci IRCCS Santa Luc, CERC, Lab Neurogenet, 64 Via Fosso di Fiorano, I-00143 Rome, Italy
Univ Perugia, Dipartimento Sci Chirurg & Biomed, Perugia, Italy Tokushima Univ, Inst Biomed Sci, Dept Clin Neurosci, Grad Sch, 3-18-15 Kuramoto Cho, Tokushima 7700042, Japan

Miyamoto, Ryosuke
论文数: 0 引用数: 0
h-index: 0
机构:
Tokushima Univ, Inst Biomed Sci, Dept Clin Neurosci, Grad Sch, 3-18-15 Kuramoto Cho, Tokushima 7700042, Japan Tokushima Univ, Inst Biomed Sci, Dept Clin Neurosci, Grad Sch, 3-18-15 Kuramoto Cho, Tokushima 7700042, Japan

Gaudiello, Fabrizio
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci IRCCS Santa Luc, CERC, Lab Neurogenet, 64 Via Fosso di Fiorano, I-00143 Rome, Italy Tokushima Univ, Inst Biomed Sci, Dept Clin Neurosci, Grad Sch, 3-18-15 Kuramoto Cho, Tokushima 7700042, Japan

Caltagirone, Carlo
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Santa Lucia, Lab Neurol Clin & Comportamentale, Rome, Italy
Univ Roma Tor Vergata, Dipartimento Med Sistemi, Rome, Italy Tokushima Univ, Inst Biomed Sci, Dept Clin Neurosci, Grad Sch, 3-18-15 Kuramoto Cho, Tokushima 7700042, Japan

Izumi, Yuishin
论文数: 0 引用数: 0
h-index: 0
机构:
Tokushima Univ, Inst Biomed Sci, Dept Clin Neurosci, Grad Sch, 3-18-15 Kuramoto Cho, Tokushima 7700042, Japan Tokushima Univ, Inst Biomed Sci, Dept Clin Neurosci, Grad Sch, 3-18-15 Kuramoto Cho, Tokushima 7700042, Japan

论文数: 引用数:
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Orlacchio, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci IRCCS Santa Luc, CERC, Lab Neurogenet, 64 Via Fosso di Fiorano, I-00143 Rome, Italy
Univ Perugia, Dipartimento Sci Chirurg & Biomed, Perugia, Italy Tokushima Univ, Inst Biomed Sci, Dept Clin Neurosci, Grad Sch, 3-18-15 Kuramoto Cho, Tokushima 7700042, Japan
[47]
A Novel Cx50 Insert Mutation from a Chinese Congenital Cataract Family Impairs Its Cellular Membrane Localization and Function
[J].
Cui, Xiukun
;
Zhou, Zheng
;
Zhu, Keke
;
Feng, Ruiping
;
Han, Jiuli
;
Li, Mengyuan
;
Wang, Shuangfeng
;
Li, Jing
;
Zhang, Jing
;
Jiang, Qiying
;
Zhang, Wanting
;
Mu, Hongmei
;
Liu, Yutao
;
Hu, Yanzhong
.
DNA AND CELL BIOLOGY,
2018, 37 (05)
:449-456

Cui, Xiukun
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Zhou, Zheng
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Zhu, Keke
论文数: 0 引用数: 0
h-index: 0
机构:
Kaifeng Ctr Hosp, Inst Eye Dis, Kaifeng Key Lab Cataract & Myopia, Kaifeng, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Feng, Ruiping
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Han, Jiuli
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Li, Mengyuan
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Wang, Shuangfeng
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Li, Jing
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Zhang, Jing
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Jiang, Qiying
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Zhang, Wanting
论文数: 0 引用数: 0
h-index: 0
机构:
Kaifeng Ctr Hosp, Inst Eye Dis, Kaifeng Key Lab Cataract & Myopia, Kaifeng, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Mu, Hongmei
论文数: 0 引用数: 0
h-index: 0
机构:
Kaifeng Ctr Hosp, Inst Eye Dis, Kaifeng Key Lab Cataract & Myopia, Kaifeng, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Liu, Yutao
论文数: 0 引用数: 0
h-index: 0
机构:
Augusta Univ, Dept Cell Biol & Anat, Augusta, GA, Georgia Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China

Hu, Yanzhong
论文数: 0 引用数: 0
h-index: 0
机构:
Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China
Kaifeng Ctr Hosp, Inst Eye Dis, Kaifeng Key Lab Cataract & Myopia, Kaifeng, Peoples R China Henan Univ, Dept Cell Biol & Genet, Joint Natl Lab Antibody Drug Engn, Henan Int Union Lab Antibody Med,Sch Med, 300 Jin Ming Rd, Kaifeng 475004, Peoples R China
[48]
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family
[J].
Xia, Xin-Yi
;
Li, Na
;
Cao, Xiang
;
Wu, Qiu-Yue
;
Li, Tian-Fu
;
Zhang, Cui
;
Li, Wei-Wei
;
Cui, Ying-Xia
;
Li, Xiao-Jun
;
Xue, Chun-Yan
.
BMC MEDICAL GENETICS,
2014, 15

Xia, Xin-Yi
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Li, Na
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Cao, Xiang
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Wu, Qiu-Yue
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Li, Tian-Fu
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Jinling Hosp, Dept Neurol, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Zhang, Cui
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Li, Wei-Wei
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Cui, Ying-Xia
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Li, Xiao-Jun
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China

Xue, Chun-Yan
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Univ Sch Med, Jinling Hosp, Dept Ophthalmol, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ Sch Med, Inst Lab Med, Jinling Hosp, Nanjing 210002, Jiangsu, Peoples R China
[49]
Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing
[J].
Guo, Yi
;
Yuan, Lamei
;
Yi, Junhui
;
Xiao, Jingjing
;
Xu, Hongbo
;
Lv, Hongwei
;
Xiong, Wei
;
Zheng, Wen
;
Guan, Liping
;
Zhang, Jianguo
;
Xiang, Hong
;
Qi, Yong
;
Deng, Hao
.
INDIAN JOURNAL OF BIOCHEMISTRY & BIOPHYSICS,
2013, 50 (04)
:253-258

Guo, Yi
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Sch Med, Dept Med Informat, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Yuan, Lamei
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Yi, Junhui
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Cent S Univ, Xiangya Hosp 3, Dept Ophthalmol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Xiao, Jingjing
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BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Xu, Hongbo
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Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Lv, Hongwei
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Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Xiong, Wei
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Cent S Univ, Xiangya Sch Med, Canc Res Inst, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Zheng, Wen
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Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Guan, Liping
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BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Zhang, Jianguo
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BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Xiang, Hong
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Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Qi, Yong
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Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

Deng, Hao
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Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China
[50]
Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene
[J].
Gul, Hadia
;
Shah, Abdul Haleem
;
Harripaul, Ricardo
;
Mikhailov, Anna
;
Khan, Ejaz Ullah
;
Shah, Wasim
;
Ahmad, Nisar
;
Vincent, John B.
;
Khan, Muzammil Ahmad
.
PAKISTAN JOURNAL OF ZOOLOGY,
2022, 54 (03)
:1215-1221

Gul, Hadia
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机构:
Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan

Shah, Abdul Haleem
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h-index: 0
机构:
Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan

Harripaul, Ricardo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Mol Neuropsychiat & Dev Lab MiND, Toronto, ON, Canada Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan

Mikhailov, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Mol Neuropsychiat & Dev Lab MiND, Toronto, ON, Canada Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan

Khan, Ejaz Ullah
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h-index: 0
机构:
Gomal Univ, Gomal Ctr Biochem & Biotechnol, Dera Ismail Khan, Pakistan Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan

Shah, Wasim
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h-index: 0
机构:
Gomal Univ, Gomal Ctr Biochem & Biotechnol, Dera Ismail Khan, Pakistan Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan

Ahmad, Nisar
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h-index: 0
机构:
Gomal Univ, Gomal Ctr Biochem & Biotechnol, Dera Ismail Khan, Pakistan Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan

Vincent, John B.
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h-index: 0
机构:
Univ Toronto, Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Mol Neuropsychiat & Dev Lab MiND, Toronto, ON, Canada
Univ Toronto, Dept Psychiat, Toronto, ON, Canada Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan

Khan, Muzammil Ahmad
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机构:
Gomal Univ, Gomal Ctr Biochem & Biotechnol, Dera Ismail Khan, Pakistan Gomal Univ, Fac Sci, Dept Biol Sci, Dera Ismail Khan 29050, Pakistan