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Studies

25638 Unclassified

6769 Case Reports

4640 Research

4620 Reviews

1138 Advanced Trials

1105 Other Trials

580 Early Trials

122 Meta-Analysis

Guidelines

59 Guidelines

16 Consensuses

11 Cochrane

Congresses

3783 Abstracts

1

Research

Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.

Dong Yin Yao, Wang Hua, Pike Ashley C W, Cochrane Stephen A, Hamedzadeh Sadra ...

Cell Vol 175(4)

Read

Date 01 Nov 2018

Institutional score
391.47
Impact
3197.10

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Date 01 Nov 2018

Institutional score
391.47
Impact
3197.10
2

Research

SOCS1 is a critical inhibitor of interferon gamma signaling and prevents the potentially fatal neonatal actions of this cytokine.

Alexander W S, Starr R, Fenner J E, Scott C L, Handman E ...

Cell Vol 98(5)

Read

Date 03 Sep 1999

Institutional score
33.21
Impact
3197.10

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Date 03 Sep 1999

Institutional score
33.21
Impact
3197.10
3

Research

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Cantagrel Vincent, Lefeber Dirk J, Ng Bobby G, Guan Ziqiang, Silhavy Jennifer L ...

Cell Vol 142(2)

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Date 23 Jul 2010

Institutional score
185.95
Impact
3197.10

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Date 23 Jul 2010

Institutional score
185.95
Impact
3197.10
4

Research

The left-right coordinator: the role of Vg1 in organizing left-right axis formation.

Hyatt B A, Yost H J

Cell Vol 93(1)

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Date 03 Apr 1998

Institutional score
0.00
Impact
3197.10

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Date 03 Apr 1998

Institutional score
0.00
Impact
3197.10
5

Research

Structural Basis of Zika Virus-Specific Antibody Protection.

Zhao Haiyan, Fernandez Estefania, Dowd Kimberly A, Speer Scott D, Platt Derek J ...

Cell Vol 166(4)

Read

Date 11 Aug 2016

Institutional score
53.90
Impact
3197.10

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Date 11 Aug 2016

Institutional score
53.90
Impact
3197.10
6

Research

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.

Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K ...

Nature genetics Vol 28(1)

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Date 01 May 2001

Institutional score
0.00
Impact
2459.31

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Date 01 May 2001

Institutional score
0.00
Impact
2459.31
7

Research

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

Senée Valérie, Chelala Claude, Duchatelet Sabine, Feng Daorong, Blanc Hervé ...

Nature genetics Vol 38(6)

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Date 01 Jun 2006

Institutional score
0.00
Impact
2459.31

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Date 01 Jun 2006

Institutional score
0.00
Impact
2459.31
8

Research

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

Putnam E A, Zhang H, Ramirez F, Milewicz D M

Nature genetics Vol 11(4)

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Date 01 Dec 1995

Institutional score
0.00
Impact
2459.31

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Date 01 Dec 1995

Institutional score
0.00
Impact
2459.31
9

Research

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Goriely Anne, Hansen Ruth M S, Taylor Indira B, Olesen Inge A, Jacobsen Grete Krag ...

Nature genetics Vol 41(11)

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Date 01 Nov 2009

Institutional score
0.00
Impact
2459.31

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Date 01 Nov 2009

Institutional score
0.00
Impact
2459.31
10

Research

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Bonnard Carine, Strobl Anna C, Shboul Mohammad, Lee Hane, Merriman Barry ...

Nature genetics Vol 44(6)

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Date 13 May 2012

Institutional score
23.03
Impact
2459.31

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Date 13 May 2012

Institutional score
23.03
Impact
2459.31

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