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Studies

2610 Unclassified

2173 Case Reports

1607 Reviews

1558 Research

992 Other Trials

493 Advanced Trials

378 Early Trials

17 Meta-Analysis

Guidelines

14 Guidelines

6 Consensuses

Congresses

604 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)

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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

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
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

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
6

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
7

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
8

Research

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J ...

Nature genetics Vol 16(1)

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Date 01 May 1997

Institutional score
0.00
Impact
2459.31

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Date 01 May 1997

Institutional score
0.00
Impact
2459.31
9

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
10

Research

Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors.

Zhu Lei, Lee Hyung-Ok, Jordan ChaRandle S, Cantrell V Ashley, Southard-Smith E Michelle ...

Nature genetics Vol 36(7)

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Date 01 Jul 2004

Institutional score
21.94
Impact
2459.31

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Date 01 Jul 2004

Institutional score
21.94
Impact
2459.31

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