(Q59564351)

English

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for aPKD2missense mutation due to uniparental disomy

scientific article published on 23 November 2011

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scholarly article

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17 January 2020

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22114106%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

autosomal dominant polycystic kidney disease

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autosomal dominant polycystic kidney

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

Elisabeth A Cornelissen

8

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17 January 2020

author name string

M Losekoot

1

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17 January 2020

C A L Ruivenkamp

2

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17 January 2020

A P Tholens

3

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17 January 2020

J E M A Grimbergen

4

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L Vijfhuizen

5

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17 January 2020

S Vermeer

6

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17 January 2020

H B Dijkman

7

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17 January 2020

E M H F Bongers

9

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17 January 2020

D J M Peters

10

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publication date

23 November 2011

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17 January 2020

Journal of Medical Genetics

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17 January 2020

49

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17 January 2020

1

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17 January 2020

37-40

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17 January 2020

Identifiers

10.1136/JMEDGENET-2011-100452

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17 January 2020

1 reference

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17 January 2020

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