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Studies

8651 Unclassified

4263 Reviews

3773 Research

3640 Other Trials

3323 Case Reports

1413 Advanced Trials

659 Early Trials

166 Meta-Analysis

Guidelines

56 Guidelines

53 Consensuses

24 Cochrane

Congresses

1396 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

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Le Goff Carine, Mahaut Clémentine, Abhyankar Avinash, Le Goff Wilfried, Serre Valérie ...

Nature genetics Vol 44(1)

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Date 11 Dec 2011

Institutional score
0.00
Impact
2459.31

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Date 11 Dec 2011

Institutional score
0.00
Impact
2459.31
4

Research

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff Carine, Morice-Picard Fanny, Dagoneau Nathalie, Wang Lauren W, Perrot Claire ...

Nature genetics Vol 40(9)

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Date 01 Sep 2008

Institutional score
0.00
Impact
2459.31

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Date 01 Sep 2008

Institutional score
0.00
Impact
2459.31
5

Research

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M ...

Nature genetics Vol 6(4)

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Date 01 Apr 1994

Institutional score
0.00
Impact
2459.31

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Date 01 Apr 1994

Institutional score
0.00
Impact
2459.31
6

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
7

Research

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

Satoda M, Zhao F, Diaz G A, Burn J, Goodship J ...

Nature genetics Vol 25(1)

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Date 01 May 2000

Institutional score
0.00
Impact
2459.31

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Date 01 May 2000

Institutional score
0.00
Impact
2459.31
8

Research

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.

Terrett J A, Newbury-Ecob R, Cross G S, Fenton I, Raeburn J A ...

Nature genetics Vol 6(4)

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Date 01 Apr 1994

Institutional score
0.00
Impact
2459.31

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Date 01 Apr 1994

Institutional score
0.00
Impact
2459.31
9

Research

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Putoux Audrey, Thomas Sophie, Coene Karlien L M, Davis Erica E, Alanay Yasemin ...

Nature genetics Vol 43(6)

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Date 01 Jun 2011

Institutional score
0.00
Impact
2459.31

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Date 01 Jun 2011

Institutional score
0.00
Impact
2459.31
10

Research

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Santen Gijs W E, Aten Emmelien, Sun Yu, Almomani Rowida, Gilissen Christian ...

Nature genetics Vol 44(4)

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Date 18 Mar 2012

Institutional score
25.65
Impact
2459.31

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Date 18 Mar 2012

Institutional score
25.65
Impact
2459.31

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