共 50 条
[41]
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
[J].
De Cruz, R.
;
Horev, L.
;
Green, J.
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Babay, S.
;
Sladden, M.
;
Zlotogorski, A.
;
Sinclair, R.
.
BRITISH JOURNAL OF DERMATOLOGY,
2012, 166
:20-26

De Cruz, R.
论文数: 0 引用数: 0
h-index: 0
机构:
St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia

Horev, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ Med Ctr, Ctr Genet Dis Skin & Hair, Dept Dermatol, Jerusalem, Israel St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia

Green, J.
论文数: 0 引用数: 0
h-index: 0
机构:
St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia

Babay, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ Med Ctr, Ctr Genet Dis Skin & Hair, Dept Dermatol, Jerusalem, Israel St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia

Sladden, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tasmania, Dept Med, Launceston, Tas 7250, Australia St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia

Zlotogorski, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ Med Ctr, Ctr Genet Dis Skin & Hair, Dept Dermatol, Jerusalem, Israel St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia

Sinclair, R.
论文数: 0 引用数: 0
h-index: 0
机构:
St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia St Vincents Hosp Melbourne, Dept Dermatol, Fitzroy, Vic 3065, Australia
[42]
A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family
[J].
Wang, Binbin
;
Yu, Changhong
;
Xi, Yi-Bo
;
Cai, Hong-Chen
;
Wang, Jing
;
Zhou, Sirui
;
Zhou, Shiyi
;
Wu, Yi
;
Yan, Yong-Bin
;
Ma, Xu
;
Xie, Lixin
.
HUMAN MUTATION,
2011, 32 (01)
:E1939-E1947

Wang, Binbin
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China
Natl Res Inst Family Planning, Beijing 100084, Peoples R China
Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China
World Hlth Org Collaborating Ctr Res Human Reprod, Beijing, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Yu, Changhong
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Xi, Yi-Bo
论文数: 0 引用数: 0
h-index: 0
机构:
Tsinghua Univ, State Key Lab Biomembrane & Membrane Biotechnol, Sch Life Sci, Beijing 100084, Peoples R China
Lanzhou Univ, Inst Biophys, Lanzhou 730000, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Cai, Hong-Chen
论文数: 0 引用数: 0
h-index: 0
机构:
Tsinghua Univ, State Key Lab Biomembrane & Membrane Biotechnol, Sch Life Sci, Beijing 100084, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Wang, Jing
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Family Planning, Beijing 100084, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Zhou, Sirui
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Family Planning, Beijing 100084, Peoples R China
Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Zhou, Shiyi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Family Planning, Beijing 100084, Peoples R China
Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Wu, Yi
论文数: 0 引用数: 0
h-index: 0
机构:
Lanzhou Univ, Inst Biophys, Lanzhou 730000, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Yan, Yong-Bin
论文数: 0 引用数: 0
h-index: 0
机构:
Tsinghua Univ, State Key Lab Biomembrane & Membrane Biotechnol, Sch Life Sci, Beijing 100084, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Ma, Xu
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Family Planning, Beijing 100084, Peoples R China
Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China
World Hlth Org Collaborating Ctr Res Human Reprod, Beijing, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China

Xie, Lixin
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China Qingdao Univ, Eye Coll, State Key Lab Cultivat Base, Shandong Prov Key Lab Ophthalmol,Shandong Eye Ins, Qingdao 266071, Peoples R China
[43]
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome
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Mair, Hailey
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Fowler, Nicholas
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Papatzanaki, Maria E.
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Sudhakar, Padmaja
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Maldonado, Ramiro S.
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OPHTHALMIC GENETICS,
2022, 43 (04)
:567-572

Mair, Hailey
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA

Fowler, Nicholas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA

Papatzanaki, Maria E.
论文数: 0 引用数: 0
h-index: 0
机构:
Iassis Med Ctr, Dept Ophthalmol, Khania, Greece Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA

Sudhakar, Padmaja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA
Univ Kentucky, Dept Neurol, Lexington, KY USA Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA

Maldonado, Ramiro S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA Univ Kentucky, Dept Ophthalmol & Visual Sci, Ophthalm Genet Serv, 110 Conn Terrace,Suite 550, Lexington, KY 40508 USA
[44]
A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy
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Zhang, Juanjuan
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Yuan, Yimin
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Lin, Bing
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Feng, Hao
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Li, Yan
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Dai, Xianning
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Zhou, Huihui
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Dong, Xujie
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Liu, Xiao-Ling
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Guan, Min-Xin
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BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
2012, 419 (04)
:670-675

Zhang, Juanjuan
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Yuan, Yimin
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Lin, Bing
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Feng, Hao
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Li, Yan
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Dai, Xianning
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Life Sci, Attardi Inst Mitochondrial Biomed, Wenzhou 325035, Zhejiang, Peoples R China
Wenzhou Med Coll, Sch Life Sci, Zhejiang Prov Key Lab Med Genet, Wenzhou 325035, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Zhou, Huihui
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Life Sci, Attardi Inst Mitochondrial Biomed, Wenzhou 325035, Zhejiang, Peoples R China
Wenzhou Med Coll, Sch Life Sci, Zhejiang Prov Key Lab Med Genet, Wenzhou 325035, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Dong, Xujie
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Liu, Xiao-Ling
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China

Guan, Min-Xin
论文数: 0 引用数: 0
h-index: 0
机构:
Wenzhou Med Coll, Sch Life Sci, Attardi Inst Mitochondrial Biomed, Wenzhou 325035, Zhejiang, Peoples R China
Wenzhou Med Coll, Sch Life Sci, Zhejiang Prov Key Lab Med Genet, Wenzhou 325035, Zhejiang, Peoples R China
Zhejiang Univ, Inst Genet, Hangzhou 310012, Zhejiang, Peoples R China
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Wenzhou Med Coll, Sch Ophthalmol & Optometry, Wenzhou 325027, Zhejiang, Peoples R China
[45]
PARK1 gene mutation of autosomal dominant Parkinson's disease family
[J].
Jiang, Ligang
;
Chen, Qiuhui
;
Zhang, Ying
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Hu, Xinyu
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Fan, Jia
;
Liu, Lifeng
;
Guo, Rui
;
Sun, Yajuan
;
Zhang, Yizhi
;
Hu, Guohua
.
NEURAL REGENERATION RESEARCH,
2011, 6 (05)
:330-334

Jiang, Ligang
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China
Cent Hosp Jilin, Dept Neurol, Nanjing 132011, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Chen, Qiuhui
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Zhang, Ying
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Hu, Xinyu
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Fan, Jia
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Liu, Lifeng
论文数: 0 引用数: 0
h-index: 0
机构:
Beihua Univ, Jilin 132011, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Guo, Rui
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Sun, Yajuan
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Zhang, Yizhi
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China

Hu, Guohua
论文数: 0 引用数: 0
h-index: 0
机构:
Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China Jilin Univ, Hosp 2, Dept Neurol, Changchun 130041, Jilin Province, Peoples R China
[46]
PARK1 gene mutation of autosomal dominant Parkinson's disease family
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Ligang Jiang1
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Neural Regeneration Research,
2011, (05)
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Ligang Jiang1
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h-index: 0
[47]
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration
[J].
Biswas, Pooja
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Chavali, Venkata Ramana Murthy
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Agnello, Giulia
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Stone, Everett
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Chakarova, Christina
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Duncan, Jacque L.
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Kannabiran, Chitra
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Homsher, Melissa
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Bhattacharya, Shomi S.
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Naeem, Muhammad Asif
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Kimchi, Adva
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Sharon, Dror
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Iwata, Takeshi
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Riazuddin, Shaikh
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Reddy, G. Bhanuprakash
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Hejtmancik, J. Fielding
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Georgiou, George
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Riazuddin, S. Amer
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Ayyagari, Radha
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HUMAN MOLECULAR GENETICS,
2016, 25 (12)
:2483-2497

Biswas, Pooja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Chavali, Venkata Ramana Murthy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA
Univ Penn, Ophthalmol, Philadelphia, PA 19104 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Agnello, Giulia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Austin, Sect Mol Genet & Microbiol, Dept Biomed Engn, Mol Biosci, Austin, TX 78712 USA
Univ Texas Austin, Sect Mol Genet & Microbiol, Dept Chem Engn, Mol Biosci, Austin, TX 78712 USA
Univ Texas Austin, Inst Cell & Mol Biol, Austin, TX 78712 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Stone, Everett
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Austin, Sect Mol Genet & Microbiol, Dept Biomed Engn, Mol Biosci, Austin, TX 78712 USA
Univ Texas Austin, Sect Mol Genet & Microbiol, Dept Chem Engn, Mol Biosci, Austin, TX 78712 USA
Univ Texas Austin, Inst Cell & Mol Biol, Austin, TX 78712 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Chakarova, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, 11-43 Bath St, London, England Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Duncan, Jacque L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Kannabiran, Chitra
论文数: 0 引用数: 0
h-index: 0
机构:
LVPEI, Kallam Anji Reddy Mol Genet Lab, Kallam Anji Reddy Campus,LV Prasad Marg, Hyderabad 500034, Andhra Pradesh, India Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Homsher, Melissa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Ophthalmol, Philadelphia, PA 19104 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Bhattacharya, Shomi S.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Ophthalmol, 11-43 Bath St, London, England Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Naeem, Muhammad Asif
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Kimchi, Adva
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ, Med Ctr, Dept Ophthalmol, Jerusalem, Israel Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Sharon, Dror
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Hebrew Univ, Med Ctr, Dept Ophthalmol, Jerusalem, Israel Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Iwata, Takeshi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Div Mol & Cellular Biol, Tokyo, Japan Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Riazuddin, Shaikh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hlth Sci Lahore, Allama Iqbal Med Coll, Lahore, Pakistan
Shaheed Zulfiqar Ali Bhutto Med Univ, Natl Ctr Genet Dis, Islamabad, Pakistan Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Reddy, G. Bhanuprakash
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Nutr, Hyderabad 500007, Andhra Pradesh, India Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Hejtmancik, J. Fielding
论文数: 0 引用数: 0
h-index: 0
机构:
NEI, OMGS OGVFB Branch, NIH, Bethesda, MD 20892 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Georgiou, George
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Austin, Sect Mol Genet & Microbiol, Dept Biomed Engn, Mol Biosci, Austin, TX 78712 USA
Univ Texas Austin, Sect Mol Genet & Microbiol, Dept Chem Engn, Mol Biosci, Austin, TX 78712 USA
Univ Texas Austin, Inst Cell & Mol Biol, Austin, TX 78712 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Riazuddin, S. Amer
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD 21205 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA

Ayyagari, Radha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA Univ Calif San Diego, Shiley Eye Inst, 9415 Campus Point Dr,JRC 206, La Jolla, CA 92093 USA
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Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes
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Jungtrakoon, Prapaporn
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Shirakawa, Jun
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Buranasupkajorn, Patinut
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Gupta, Manoj K.
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De Jesus, Dario F.
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Pezzolesi, Marcus G.
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Panya, Aussara
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Hastings, Timothy
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Chanprasert, Chutima
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Mendonca, Christine
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Kulkarni, Rohit N.
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Doria, Alessandro
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DIABETES,
2019, 68 (05)
:1084-1093

Jungtrakoon, Prapaporn
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Joslin Diabet Ctr, Sect Genet & Epidemiol, Boston, MA 02215 USA
Joslin Diabet Ctr, Sect Islet Cell & Regenerat Biol, Boston, MA 02215 USA Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Shirakawa, Jun
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Mahidol Univ, Div Mol Med, Res Dept, Fac Med,Siriraj Hosp, Bangkok, Thailand Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Buranasupkajorn, Patinut
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Joslin Diabet Ctr, Sect Genet & Epidemiol, Boston, MA 02215 USA
Chulalongkorn Univ, Div Hosp & Ambulatory Med, Dept Med, Fac Med, Bangkok, Thailand Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Gupta, Manoj K.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Mahidol Univ, Div Mol Med, Res Dept, Fac Med,Siriraj Hosp, Bangkok, Thailand Harvard Med Sch, Dept Med, Boston, MA 02115 USA

De Jesus, Dario F.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Mahidol Univ, Div Mol Med, Res Dept, Fac Med,Siriraj Hosp, Bangkok, Thailand Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Pezzolesi, Marcus G.
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Univ Utah, Sch Med, Div Nephrol & Hypertens, Salt Lake City, UT USA Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Panya, Aussara
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h-index: 0
机构:
Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Joslin Diabet Ctr, Sect Genet & Epidemiol, Boston, MA 02215 USA
Joslin Diabet Ctr, Sect Islet Cell & Regenerat Biol, Boston, MA 02215 USA Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Hastings, Timothy
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Joslin Diabet Ctr, Sect Genet & Epidemiol, Boston, MA 02215 USA Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Chanprasert, Chutima
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Joslin Diabet Ctr, Sect Islet Cell & Regenerat Biol, Boston, MA 02215 USA Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Mendonca, Christine
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Joslin Diabet Ctr, Sect Genet & Epidemiol, Boston, MA 02215 USA Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Kulkarni, Rohit N.
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Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Mahidol Univ, Div Mol Med, Res Dept, Fac Med,Siriraj Hosp, Bangkok, Thailand Harvard Med Sch, Dept Med, Boston, MA 02115 USA

Doria, Alessandro
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Harvard Med Sch, Dept Med, Boston, MA 02115 USA
Joslin Diabet Ctr, Sect Genet & Epidemiol, Boston, MA 02215 USA Harvard Med Sch, Dept Med, Boston, MA 02115 USA
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Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree
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Liu, X. P.
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Ling, J.
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Hu, Z. M.
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Wu, L. Q.
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Liu, X. P.
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机构:
Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Ling, J.
论文数: 0 引用数: 0
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Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Xiong, H.
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h-index: 0
机构:
Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Shi, X. L.
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h-index: 0
机构:
Cent S Univ, Xiangya Hosp 2, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Sun, X.
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Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Pan, Q.
论文数: 0 引用数: 0
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Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Hu, Z. M.
论文数: 0 引用数: 0
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机构:
Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China
Cent S Univ, Sch Biol Sci & Technol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Wu, L. Q.
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机构:
Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Liang, D. S.
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Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Long, Z. G.
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Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Dai, H. P.
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Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Xia, J. H.
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Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China

Xia, K.
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Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China
Cent S Univ, Sch Biol Sci & Technol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, State Key Lab Med Genet China, Changsha, Hunan, Peoples R China
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Obermannova, Barbora
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Lebl, Jan
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Hendy, Geoffrey N.
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EUROPEAN JOURNAL OF ENDOCRINOLOGY,
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Obermannova, Barbora
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Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic

Sumnik, Zdenek
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Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic

Dusatkova, Petra
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Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic

Cinek, Ondrej
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Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic

Grant, Michael
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McGill Univ, Lady Davis Inst Med Res, SMBD Jewish Gen Hosp, Montreal, PQ H3T 1E2, Canada Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic

Lebl, Jan
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Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic

Hendy, Geoffrey N.
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机构:
McGill Univ, Ctr Hlth, Expt Therapeut & Metab, Room EM1-3226 RI,Glen Site,1001 Decarie Blvd, Montreal, PQ H4A 3J1, Canada
McGill Univ, Dept Med, Montreal, PQ H4A 3J1, Canada
McGill Univ, Dept Physiol, Montreal, PQ H4A 3J1, Canada
McGill Univ, Dept Human Genet, Montreal, PQ H4A 3J1, Canada Charles Univ Prague, Fac Med 2, Dept Pediat, Univ Hosp Motol, V Uvalu 84, CZ-15006 Prague, Czech Republic