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Studies

11782 Unclassified

5077 Reviews

4531 Research

3894 Other Trials

3168 Case Reports

1755 Advanced Trials

796 Early Trials

181 Meta-Analysis

Guidelines

66 Guidelines

55 Consensuses

31 Cochrane

Congresses

1660 Abstracts

1

Research

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Celli J, Duijf P, Hamel B C, Bamshad M, Kramer B ...

Cell Vol 99(2)

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Date 15 Oct 1999

Institutional score
0.00
Impact
3197.10

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Date 15 Oct 1999

Institutional score
0.00
Impact
3197.10
2

Research

Cryo-EM Structure of Chikungunya Virus in Complex with the Mxra8 Receptor.

Basore Katherine, Kim Arthur S, Nelson Christopher A, Zhang Rong, Smith Brittany K ...

Cell Vol 177(7)

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Date 13 Jun 2019

Institutional score
0.00
Impact
3197.10

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Date 13 Jun 2019

Institutional score
0.00
Impact
3197.10
3

Research

Mutation of HOXA13 in hand-foot-genital syndrome.

Mortlock D P, Innis J W

Nature genetics Vol 15(2)

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Date 01 Feb 1997

Institutional score
0.00
Impact
2459.31

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Date 01 Feb 1997

Institutional score
0.00
Impact
2459.31
4

Research

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Cappello Silvia, Gray Mary J, Badouel Caroline, Lange Simona, Einsiedler Melanie ...

Nature genetics Vol 45(11)

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Date 01 Nov 2013

Institutional score
0.00
Impact
2459.31

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Date 01 Nov 2013

Institutional score
0.00
Impact
2459.31
5

Research

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

Jabs E W, Li X, Scott A F, Meyers G, Chen W ...

Nature genetics Vol 8(3)

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Date 01 Nov 1994

Institutional score
0.00
Impact
2459.31

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Date 01 Nov 1994

Institutional score
0.00
Impact
2459.31
6

Research

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Van Houdt Jeroen K J, Nowakowska Beata Anna, Sousa Sérgio B, van Schaik Barbera D C, Seuntjens Eve ...

Nature genetics Vol 44(4)

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Date 26 Feb 2012

Institutional score
0.00
Impact
2459.31

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Date 26 Feb 2012

Institutional score
0.00
Impact
2459.31
7

Research

Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

Tachmazidou Ioanna, Hatzikotoulas Konstantinos, Southam Lorraine, Esparza-Gordillo Jorge, Haberland Valeriia ...

Nature genetics Vol 51(2)

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Date 01 Feb 2019

Institutional score
56.78
Impact
2459.31

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Date 01 Feb 2019

Institutional score
56.78
Impact
2459.31
8

Research

Association between Mental Disorders and Subsequent Medical Conditions.

Momen Natalie C, Plana-Ripoll Oleguer, Agerbo Esben, Benros Michael E, Børglum Anders D ...

The New England journal of medicine Vol 382(18)

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Date 30 Apr 2020

Institutional score
27.74
Impact
1625.37

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Date 30 Apr 2020

Institutional score
27.74
Impact
1625.37
9

Research

Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A.

Fledrich Robert, Stassart Ruth M, Klink Axel, Rasch Lennart M, Prukop Thomas ...

Nature medicine Vol 20(9)

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Date 01 Sep 2014

Institutional score
0.00
Impact
1184.11

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Date 01 Sep 2014

Institutional score
0.00
Impact
1184.11
10

Research

Stiffness of the human foot and evolution of the transverse arch.

Venkadesan Madhusudhan, Yawar Ali, Eng Carolyn M, Dias Marcelo A, Singh Dhiraj K ...

Nature Vol 579(7797)

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Date 01 Mar 2020

Institutional score
137.74
Impact
1065.70

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Date 01 Mar 2020

Institutional score
137.74
Impact
1065.70

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