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Studies

30022 Unclassified

12455 Research

10485 Case Reports

9725 Reviews

4285 Other Trials

3404 Advanced Trials

2018 Early Trials

175 Meta-Analysis

Guidelines

67 Guidelines

35 Consensuses

34 Cochrane

Congresses

6159 Abstracts

1

Research

Further pharmacological and genetic evidence for the efficacy of PlGF inhibition in cancer and eye disease.

Van de Veire Sara, Stalmans Ingeborg, Heindryckx Femke, Oura Hajimu, Tijeras-Raballand Annemilaï ...

Cell Vol 141(1)

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Date 02 Apr 2010

Institutional score
0.00
Impact
3197.10

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Date 02 Apr 2010

Institutional score
0.00
Impact
3197.10
2

Research

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.

Chou Christopher M, Nelson Christine, Tarlé Susan A, Pribila Jonathan T, Bardakjian Tanya ...

Cell Vol 161(3)

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Date 23 Apr 2015

Institutional score
75.13
Impact
3197.10

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Date 23 Apr 2015

Institutional score
75.13
Impact
3197.10
3

Research

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R ...

Cell Vol 75(5)

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Date 03 Dec 1993

Institutional score
20.83
Impact
3197.10

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Date 03 Dec 1993

Institutional score
20.83
Impact
3197.10
4

Research

A genetic clog in the vitamin A transport machinery.

Zhong Ming, Sun Hui

Cell Vol 161(3)

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Date 23 Apr 2015

Institutional score
206.61
Impact
3197.10

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Date 23 Apr 2015

Institutional score
206.61
Impact
3197.10
5

Research

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Chen Z Y, Battinelli E M, Fielder A, Bundey S, Sims K ...

Nature genetics Vol 5(2)

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Date 01 Oct 1993

Institutional score
140.34
Impact
2459.31

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Date 01 Oct 1993

Institutional score
140.34
Impact
2459.31
6

Research

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

Arts Heleen H, Doherty Dan, van Beersum Sylvia E C, Parisi Melissa A, Letteboer Stef J F ...

Nature genetics Vol 39(7)

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Date 01 Jul 2007

Institutional score
24.31
Impact
2459.31

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Date 01 Jul 2007

Institutional score
24.31
Impact
2459.31
7

Research

Biochemical defects in ABCR protein variants associated with human retinopathies.

Sun H, Smallwood P M, Nathans J

Nature genetics Vol 26(2)

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Date 01 Oct 2000

Institutional score
371.90
Impact
2459.31

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Date 01 Oct 2000

Institutional score
371.90
Impact
2459.31
8

Research

Mutations in KERA, encoding keratocan, cause cornea plana.

Pellegata N S, Dieguez-Lucena J L, Joensuu T, Lau S, Montgomery K T ...

Nature genetics Vol 25(1)

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Date 01 May 2000

Institutional score
90.71
Impact
2459.31

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Date 01 May 2000

Institutional score
90.71
Impact
2459.31
9

Research

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.

Yamamoto H, Simon A, Eriksson U, Harris E, Berson E L ...

Nature genetics Vol 22(2)

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Date 01 Jun 1999

Institutional score
1487.60
Impact
2459.31

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Date 01 Jun 1999

Institutional score
1487.60
Impact
2459.31
10

Research

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

Saksens Nicole T M, Krebs Mark P, Schoenmaker-Koller Frederieke E, Hicks Wanda, Yu Minzhong ...

Nature genetics Vol 48(2)

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Date 01 Feb 2016

Institutional score
27.05
Impact
2459.31

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Date 01 Feb 2016

Institutional score
27.05
Impact
2459.31

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