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Studies

27472 Unclassified

9599 Research

8952 Case Reports

8658 Reviews

3976 Other Trials

3224 Advanced Trials

1785 Early Trials

169 Meta-Analysis

Guidelines

67 Guidelines

31 Consensuses

28 Cochrane

Congresses

5399 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

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Kondo Shinji, Schutte Brian C, Richardson Rebecca J, Bjork Bryan C, Knight Alexandra S ...

Nature genetics Vol 32(2)

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Date 01 Oct 2002

Institutional score
28.83
Impact
2459.31

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Date 01 Oct 2002

Institutional score
28.83
Impact
2459.31
6

Research

Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch.

Richardson Rebecca J, Dixon Jill, Malhotra Saimon, Hardman Matthew J, Knowles Lynnette ...

Nature genetics Vol 38(11)

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Date 01 Nov 2006

Institutional score
73.64
Impact
2459.31

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Date 01 Nov 2006

Institutional score
73.64
Impact
2459.31
7

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
8

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
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

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

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