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Studies

5842 Unclassified

4227 Case Reports

4043 Other Trials

3906 Reviews

2934 Research

2004 Advanced Trials

1632 Early Trials

51 Meta-Analysis

Guidelines

23 Guidelines

10 Cochrane

8 Consensuses

Congresses

1751 Abstracts

1

Research

Small nuclear ribonucleoprotein particle assembly in vivo: demonstration of a 6S RNA-free core precursor and posttranslational modification.

Fisher D E, Conner G E, Reeves W H, Wisniewolski R, Blobel G

Cell Vol 42(3)

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Date 01 Oct 1985

Institutional score
0.00
Impact
3197.10

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Date 01 Oct 1985

Institutional score
0.00
Impact
3197.10
2

Research

MT1-MMP-deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover.

Holmbeck K, Bianco P, Caterina J, Yamada S, Kromer M ...

Cell Vol 99(1)

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Date 01 Oct 1999

Institutional score
20.16
Impact
3197.10

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Date 01 Oct 1999

Institutional score
20.16
Impact
3197.10
3

Research

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders...

Downing A K, Knott V, Werner J M, Cardy C M, Campbell I D ...

Cell Vol 85(4)

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Date 17 May 1996

Institutional score
391.47
Impact
3197.10

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Date 17 May 1996

Institutional score
391.47
Impact
3197.10
4

Research

A human autoimmune protein associated with U1 RNA contains a region of homology that is cross-reactive with retroviral p30gag antigen.

Query C C, Keene J D

Cell Vol 51(2)

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Date 23 Oct 1987

Institutional score
123.97
Impact
3197.10

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Date 23 Oct 1987

Institutional score
123.97
Impact
3197.10
5

Research

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

Morello Roy, Bertin Terry K, Chen Yuqing, Hicks John, Tonachini Laura ...

Cell Vol 127(2)

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Date 20 Oct 2006

Institutional score
39.78
Impact
3197.10

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Date 20 Oct 2006

Institutional score
39.78
Impact
3197.10
6

Research

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Ewart A K, Morris C A, Atkinson D, Jin W, Sternes K ...

Nature genetics Vol 5(1)

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Date 01 Sep 1993

Institutional score
38.34
Impact
2459.31

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Date 01 Sep 1993

Institutional score
38.34
Impact
2459.31
7

Research

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.

Andrikopoulos K, Liu X, Keene D R, Jaenisch R, Ramirez F

Nature genetics Vol 9(1)

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Date 01 Jan 1995

Institutional score
0.00
Impact
2459.31

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Date 01 Jan 1995

Institutional score
0.00
Impact
2459.31
8

Research

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.

Lyons Jonathan J, Yu Xiaomin, Hughes Jason D, Le Quang T, Jamil Ali ...

Nature genetics Vol 48(12)

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Date 01 Dec 2016

Institutional score
73.64
Impact
2459.31

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Date 01 Dec 2016

Institutional score
73.64
Impact
2459.31
9

Research

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Collod G, Babron M C, Jondeau G, Coulon M, Weissenbach J ...

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
10

Research

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

van de Laar Ingrid M B H, Oldenburg Rogier A, Pals Gerard, Roos-Hesselink Jolien W, de Graaf Bianca M ...

Nature genetics Vol 43(2)

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Date 01 Feb 2011

Institutional score
33.66
Impact
2459.31

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Date 01 Feb 2011

Institutional score
33.66
Impact
2459.31

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