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15232 Unclassified

5441 Research

5006 Reviews

1719 Other Trials

1503 Advanced Trials

1458 Case Reports

651 Early Trials

125 Meta-Analysis

Guidelines

79 Guidelines

26 Consensuses

13 Cochrane

Congresses

4204 Abstracts

1

Research

Modeling human disease in humans: the ciliopathies.

Novarino Gaia, Akizu Naiara, Gleeson Joseph G

Cell Vol 147(1)

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Date 30 Sep 2011

Institutional score
185.95
Impact
3197.10

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Date 30 Sep 2011

Institutional score
185.95
Impact
3197.10
2

Research

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

Sang Liyun, Miller Julie J, Corbit Kevin C, Giles Rachel H, Brauer Matthew J ...

Cell Vol 145(4)

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Date 13 May 2011

Institutional score
97.87
Impact
3197.10

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Date 13 May 2011

Institutional score
97.87
Impact
3197.10
3

Research

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

Becker-Heck Anita, Zohn Irene E, Okabe Noriko, Pollock Andrew, Lenhart Kari Baker ...

Nature genetics Vol 43(1)

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Date 01 Jan 2011

Institutional score
0.00
Impact
2459.31

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Date 01 Jan 2011

Institutional score
0.00
Impact
2459.31
4

Research

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Merveille Anne-Christine, Davis Erica E, Becker-Heck Anita, Legendre Marie, Amirav Israel ...

Nature genetics Vol 43(1)

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Date 01 Jan 2011

Institutional score
0.00
Impact
2459.31

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Date 01 Jan 2011

Institutional score
0.00
Impact
2459.31
5

Research

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.

Wirschell Maureen, Olbrich Heike, Werner Claudius, Tritschler Douglas, Bower Raqual ...

Nature genetics Vol 45(3)

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Date 01 Mar 2013

Institutional score
61.47
Impact
2459.31

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Date 01 Mar 2013

Institutional score
61.47
Impact
2459.31
6

Research

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Davis Erica E, Zhang Qi, Liu Qin, Diplas Bill H, Davey Lisa M ...

Nature genetics Vol 43(3)

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Date 01 Mar 2011

Institutional score
123.97
Impact
2459.31

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Date 01 Mar 2011

Institutional score
123.97
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

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

Lee Ji Eun, Silhavy Jennifer L, Zaki Maha S, Schroth Jana, Bielas Stephanie L ...

Nature genetics Vol 44(2)

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Date 15 Jan 2012

Institutional score
185.95
Impact
2459.31

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Date 15 Jan 2012

Institutional score
185.95
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 DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Olbrich Heike, Häffner Karsten, Kispert Andreas, Völkel Alexander, Volz Andreas ...

Nature genetics Vol 30(2)

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Date 01 Feb 2002

Institutional score
0.00
Impact
2459.31

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Date 01 Feb 2002

Institutional score
0.00
Impact
2459.31

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