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Studies

31419 Unclassified

12537 Research

11811 Case Reports

9906 Reviews

4348 Other Trials

3572 Advanced Trials

2073 Early Trials

187 Meta-Analysis

Guidelines

68 Guidelines

39 Cochrane

36 Consensuses

Congresses

6576 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

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.

Pennacchio L A, Bouley D M, Higgins K M, Scott M P, Noebels J L ...

Nature genetics Vol 20(3)

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Date 01 Nov 1998

Institutional score
826.44
Impact
2459.31

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Date 01 Nov 1998

Institutional score
826.44
Impact
2459.31
7

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
8

Research

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

Hanson I M, Fletcher J M, Jordan T, Brown A, Taylor D ...

Nature genetics Vol 6(2)

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Date 01 Feb 1994

Institutional score
0.00
Impact
2459.31

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Date 01 Feb 1994

Institutional score
0.00
Impact
2459.31
9

Research

Identification of the gene causing mucolipidosis type IV.

Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M ...

Nature genetics Vol 26(1)

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Date 01 Sep 2000

Institutional score
0.00
Impact
2459.31

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Date 01 Sep 2000

Institutional score
0.00
Impact
2459.31
10

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

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