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Studies

35351 Unclassified

23735 Case Reports

18203 Reviews

15099 Research

9322 Advanced Trials

7340 Other Trials

5865 Early Trials

450 Meta-Analysis

Guidelines

267 Guidelines

166 Cochrane

105 Consensuses

Congresses

9142 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

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

Simon D B, Karet F E, Hamdan J M, DiPietro A, Sanjad S A ...

Nature genetics Vol 13(2)

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Date 01 Jun 1996

Institutional score
232.44
Impact
2459.31

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Date 01 Jun 1996

Institutional score
232.44
Impact
2459.31
3

Research

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.

Simon D B, Karet F E, Rodriguez-Soriano J, Hamdan J H, DiPietro A ...

Nature genetics Vol 14(2)

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Date 01 Oct 1996

Institutional score
232.44
Impact
2459.31

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Date 01 Oct 1996

Institutional score
232.44
Impact
2459.31
4

Research

Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule.

Lalioti Maria D, Zhang Junhui, Volkman Heather M, Kahle Kristopher T, Hoffmann Kristin E ...

Nature genetics Vol 38(10)

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Date 01 Oct 2006

Institutional score
137.74
Impact
2459.31

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Date 01 Oct 2006

Institutional score
137.74
Impact
2459.31
5

Research

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

Nature genetics Vol 26(3)

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Date 01 Nov 2000

Institutional score
0.00
Impact
2459.31

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Date 01 Nov 2000

Institutional score
0.00
Impact
2459.31
6

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
7

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
8

Research

Familial idiopathic hypercalciuria.

Coe F L, Parks J H, Moore E S

The New England journal of medicine Vol 300(7)

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Date 15 Feb 1979

Institutional score
0.00
Impact
1998.19

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Date 15 Feb 1979

Institutional score
0.00
Impact
1998.19
9

Research

Hypercalciuria in children with hematuria.

Stapleton F B, Roy S, Noe H N, Jerkins G

The New England journal of medicine Vol 310(21)

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Date 24 May 1984

Institutional score
0.00
Impact
1998.19

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Date 24 May 1984

Institutional score
0.00
Impact
1998.19
10

Research

Calcium homeostasis in immobilization: an example of resorptive hypercalciuria.

Stewart A F, Adler M, Byers C M, Segre G V, Broadus A E

The New England journal of medicine Vol 306(19)

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Date 13 May 1982

Institutional score
0.00
Impact
1998.19

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Date 13 May 1982

Institutional score
0.00
Impact
1998.19

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