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Studies

64097 Unclassified

29244 Case Reports

12082 Research

11858 Reviews

5325 Other Trials

5276 Advanced Trials

2655 Early Trials

702 Meta-Analysis

Guidelines

127 Guidelines

73 Cochrane

48 Consensuses

Congresses

10728 Abstracts

1

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
2

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
3

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
4

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)

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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
5

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)

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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
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

Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias.

Merrell Allyson J, Ellis Benjamin J, Fox Zachary D, Lawson Jennifer A, Weiss Jeffrey A ...

Nature genetics Vol 47(5)

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Date 01 May 2015

Institutional score
38.34
Impact
2459.31

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Date 01 May 2015

Institutional score
38.34
Impact
2459.31
8

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
9

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
10

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

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