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25484 Unclassified

8688 Research

8191 Reviews

6758 Case Reports

3806 Other Trials

2799 Advanced Trials

1668 Early Trials

142 Meta-Analysis

Guidelines

63 Guidelines

30 Consensuses

26 Cochrane

Congresses

4854 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

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
4

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
5

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
6

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
7

Research

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Delous Marion, Baala Lekbir, Salomon Rémi, Laclef Christine, Vierkotten Jeanette ...

Nature genetics Vol 39(7)

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Date 01 Jul 2007

Institutional score
0.00
Impact
2459.31

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Date 01 Jul 2007

Institutional score
0.00
Impact
2459.31
8

Research

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci Sibel, Al-Gazali Lihadh, Hill R Sean, Donnai Dian, Black Graeme C M ...

Nature genetics Vol 39(8)

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Date 01 Aug 2007

Institutional score
140.34
Impact
2459.31

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Date 01 Aug 2007

Institutional score
140.34
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

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

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