共 76 条
[1]
CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy
[J].
Aleman, Tomas S.
;
Soumittra, Nagasamy
;
Cideciyan, Artur V.
;
Sumaroka, Alexander M.
;
Ramprasad, Vedam Lakshmi
;
Herrera, Waldo
;
Windsor, Elizabeth A. M.
;
Schwartz, Sharon B.
;
Russell, Robert C.
;
Roman, Alejandro J.
;
Inglehearn, Chris F.
;
Kumaramanickavel, Govindasamy
;
Stone, Edwin M.
;
Fishman, Gerald A.
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Jacobson, Samuel G.
.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,
2009, 50 (12)
:5944-5954

Aleman, Tomas S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Soumittra, Nagasamy
论文数: 0 引用数: 0
h-index: 0
机构:
SNONGC, Vis Res Fdn, Dept Genet & Mol Biol, Madras, Tamil Nadu, India Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Cideciyan, Artur V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Sumaroka, Alexander M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Ramprasad, Vedam Lakshmi
论文数: 0 引用数: 0
h-index: 0
机构:
SNONGC, Vis Res Fdn, Dept Genet & Mol Biol, Madras, Tamil Nadu, India Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Herrera, Waldo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Windsor, Elizabeth A. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Schwartz, Sharon B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Russell, Robert C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Roman, Alejandro J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Inglehearn, Chris F.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Kumaramanickavel, Govindasamy
论文数: 0 引用数: 0
h-index: 0
机构:
SNONGC, Vis Res Fdn, Dept Genet & Mol Biol, Madras, Tamil Nadu, India Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Stone, Edwin M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Dept Ophthalmol, Carver Coll Med, Iowa City, IA 52242 USA
Univ Iowa, Howard Hughes Med Inst, Iowa City, IA 52242 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Fishman, Gerald A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Illinois, Dept Ophthalmol & Visual Sci, Chicago, IL USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Jacobson, Samuel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA
[2]
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
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Allikmets, R
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Singh, N
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Sun, H
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Shroyer, NE
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Hutchinson, A
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Chidambaram, A
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Gerrard, B
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Baird, L
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Stauffer, D
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Peiffer, A
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Rattner, A
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Smallwood, P
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NATURE GENETICS,
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Allikmets, R
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Singh, N
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Sun, H
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Shroyer, NE
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Hutchinson, A
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Chidambaram, A
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Gerrard, B
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Baird, L
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Stauffer, D
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Peiffer, A
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Rattner, A
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Smallwood, P
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Li, YX
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Anderson, KL
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Lewis, RA
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h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Nathans, J
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Leppert, M
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Dean, M
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA

Lupski, JR
论文数: 0 引用数: 0
h-index: 0
机构: NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA
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Vollmer, HR
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[6]
Classification of fundus autofluorescence patterns in early age-related macular disease
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Bindewald, A
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Bird, AC
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Dandekar, SS
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Bindewald, A
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Bird, AC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Dandekar, SS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Dolar-Szczasny, J
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Dreyhaupt, J
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Fitzke, FW
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Einbock, W
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Holz, FG
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Keilhauer, C
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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Lois, N
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Mlynski, J
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Pauleikhoff, D
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Staurenghi, G
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Wolf, S
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h-index: 0
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Classification of abnormal fundus autofluorescence patterns in the junctional zone of geographic atrophy in patients with age related macular degeneration
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Schmitz-Valckenberg, S
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Jorzik, JJ
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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Dolar-Szczasny, J
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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Sieber, H
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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Keilhauer, C
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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Weinberger, AWA
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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Dithmar, S
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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Pauleikhoff, D
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机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Mansmann, U
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Wolf, S
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h-index: 0
机构: Univ Bonn, Dept Ophthalmol, D-53127 Bonn, Germany

Holz, FG
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Chrispell, Jared D.
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机构: Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Feathers, Kecia L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Kane, Maureen A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Berkeley, Dept Nutr Sci & Toxicol, Berkeley, CA 94720 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Kim, Chul Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY 10032 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Brooks, Matthew
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA
NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Khanna, Ritu
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Kurth, Ingo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hamburg Eppendorf, Inst Human Genet, D-20251 Hamburg, Germany Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Huebner, Christian A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Dept Clin Chem, D-07747 Jena, Germany Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Gal, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hamburg Eppendorf, Inst Human Genet, D-20251 Hamburg, Germany Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Mears, Alan J.
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h-index: 0
机构:
Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA
Univ Ottawa, Inst Eye, Ottawa, ON K1Y 4E9, Canada
Ottawa Hlth Res Inst, Ottawa, ON K1Y 4E9, Canada Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Swaroop, Anand
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h-index: 0
机构:
Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA
NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, Bethesda, MD 20892 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Napoli, Joseph L.
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机构:
Univ Calif Berkeley, Dept Nutr Sci & Toxicol, Berkeley, CA 94720 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Sparrow, Janet R.
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h-index: 0
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Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY 10032 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA

Thompson, Debra A.
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h-index: 0
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Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA Univ Michigan, Sch Med, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48105 USA
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Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle:: a reappraisal of the human disease sequence
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Cideciyan, AV
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机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Aleman, TS
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Swider, M
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Schwartz, SB
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Steinberg, JD
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Brucker, AJ
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Maguire, AM
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Bennett, J
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Stone, EM
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

Jacobson, SG
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h-index: 0
机构: Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA