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Studies

29820 Unclassified

10033 Research

9772 Case Reports

9073 Reviews

3989 Other Trials

3294 Advanced Trials

1823 Early Trials

178 Meta-Analysis

Guidelines

71 Guidelines

48 Cochrane

31 Consensuses

Congresses

5731 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

Nuclear envelope breakdown proceeds by microtubule-induced tearing of the lamina.

Beaudouin Joël, Gerlich Daniel, Daigle Nathalie, Eils Roland, Ellenberg Jan

Cell Vol 108(1)

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Date 11 Jan 2002

Institutional score
0.00
Impact
3197.10

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Date 11 Jan 2002

Institutional score
0.00
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

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
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

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 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

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
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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