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Studies

44607 Unclassified

26879 Case Reports

22364 Reviews

17830 Research

12705 Advanced Trials

9228 Other Trials

7724 Early Trials

869 Meta-Analysis

Guidelines

341 Guidelines

277 Cochrane

137 Consensuses

Congresses

10784 Abstracts

1

Research

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

Mundlos S, Otto F, Mundlos C, Mulliken J B, Aylsworth A S ...

Cell Vol 89(5)

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Date 30 May 1997

Institutional score
0.00
Impact
3197.10

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Date 30 May 1997

Institutional score
0.00
Impact
3197.10
2

Research

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Risheg Hiba, Graham John M, Clark Robin D, Rogers R Curtis, Opitz John M ...

Nature genetics Vol 39(4)

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Date 01 Apr 2007

Institutional score
0.00
Impact
2459.31

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Date 01 Apr 2007

Institutional score
0.00
Impact
2459.31
3

Research

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Hurvitz J R, Suwairi W M, Van Hul W, El-Shanti H, Superti-Furga A ...

Nature genetics Vol 23(1)

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Date 01 Sep 1999

Institutional score
13.14
Impact
2459.31

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Date 01 Sep 1999

Institutional score
13.14
Impact
2459.31
4

Research

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.

Meissner P N, Dailey T A, Hift R J, Ziman M, Corrigall A V ...

Nature genetics Vol 13(1)

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Date 01 May 1996

Institutional score
16.98
Impact
2459.31

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Date 01 May 1996

Institutional score
16.98
Impact
2459.31
5

Research

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Lerner-Ellis Jordan P, Tirone Jamie C, Pawelek Peter D, Doré Carole, Atkinson Janet L ...

Nature genetics Vol 38(1)

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Date 01 Jan 2006

Institutional score
56.78
Impact
2459.31

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Date 01 Jan 2006

Institutional score
56.78
Impact
2459.31
6

Research

Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b.

Carney J A, Go V L, Sizemore G W, Hayles A B

The New England journal of medicine Vol 295(23)

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Date 02 Dec 1976

Institutional score
0.00
Impact
1998.19

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Date 02 Dec 1976

Institutional score
0.00
Impact
1998.19
7

Research

Symptoms and suffering at the end of life in children with cancer.

Wolfe J, Grier H E, Klar N, Levin S B, Ellenbogen J M ...

The New England journal of medicine Vol 342(5)

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Date 03 Feb 2000

Institutional score
0.00
Impact
1998.19

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Date 03 Feb 2000

Institutional score
0.00
Impact
1998.19
8

Research

Clinical findings for fungal infections caused by methylprednisolone injections.

Chiller Tom M, Roy Monika, Nguyen Duc, Guh Alice, Malani Anurag N ...

The New England journal of medicine Vol 369(17)

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Date 24 Oct 2013

Institutional score
0.00
Impact
1998.19

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Date 24 Oct 2013

Institutional score
0.00
Impact
1998.19
9

Research

Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.

Wijnen J T, Vasen H F, Khan P M, Zwinderman A H, van der Klift H ...

The New England journal of medicine Vol 339(8)

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Date 20 Aug 1998

Institutional score
25.65
Impact
1998.19

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Date 20 Aug 1998

Institutional score
25.65
Impact
1998.19
10

Research

Tuberculous meningitis in patients infected with the human immunodeficiency virus.

Berenguer J, Moreno S, Laguna F, Vicente T, Adrados M ...

The New England journal of medicine Vol 326(10)

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Date 05 Mar 1992

Institutional score
0.00
Impact
1998.19

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Date 05 Mar 1992

Institutional score
0.00
Impact
1998.19

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