Clinical delineation of the PACS1-related syndrome--Report on 19 patients. (Q52144735)

http://europepmc.org/abstract/MED/26842493

23 April 2018

title

Clinical delineation of the PACS1-related syndrome--Report on 19 patients. (English)

1 reference

http://europepmc.org/abstract/MED/26842493

23 April 2018

author

Frank Kooy

16

1 reference

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12 June 2020

Maja Tarailo-Graovac

24

1 reference

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Stephanie Greville-Heygate

12 June 2020

6

1 reference

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12 June 2020

Christiane Zweier

31

1 reference

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12 June 2020

38

Han G Brunner

1 reference

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12 June 2020

29

Daniele Merico

1 reference

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12 June 2020

19

Usha Kini

1 reference

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Janneke H M Schuurs-Hoeijmakers

12 June 2020

1

object named as

Janneke H M Schuurs-Hoeijmakers

1 reference

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12 June 2020

author name string

Megan L Landsverk

2

1 reference

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12 June 2020

Nicola Foulds

3

1 reference

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12 June 2020

Mary K Kukolich

4

1 reference

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12 June 2020

Ralitza H Gavrilova

5

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12 June 2020

Andrea Hanson-Kahn

7

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12 June 2020

Jonathan A Bernstein

8

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12 June 2020

Jennifer Glass

9

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12 June 2020

David Chitayat

10

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12 June 2020

Thomas A Burrow

11

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12 June 2020

Ammar Husami

12

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12 June 2020

Kathleen Collins

13

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12 June 2020

Katie Wusik

14

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12 June 2020

Nathalie van der Aa

15

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12 June 2020

Kate Tatton Brown

17

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12 June 2020

Dorothea Gadzicki

18

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12 June 2020

Sara Alvarez

20

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12 June 2020

Alberto Fernández-Jaén

21

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12 June 2020

Frank McGehee

22

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12 June 2020

Katherine Selby

23

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12 June 2020

Margot Van Allen

25

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12 June 2020

Clara D M van Karnebeek

26

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12 June 2020

Dimitri J Stavropoulos

27

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12 June 2020

Christian R Marshall

28

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12 June 2020

Anne Gregor

30

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12 June 2020

Robert J Hopkin

32

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12 June 2020

Yoyo Wing-Yiu Chu

33

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12 June 2020

Brian Hon-Yin Chung

34

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12 June 2020

Bert B A de Vries

35

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12 June 2020

Koenraad Devriendt

36

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12 June 2020

Matthew E Hurles

37

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12 June 2020

DDD study

39

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12 June 2020

language of work or name

English

0 references

publication date

3 February 2016

1 reference

http://europepmc.org/abstract/MED/26842493

23 April 2018

published in

American Journal of Medical Genetics

1 reference

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12 June 2020

volume

170

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12 June 2020

page(s)

670-675

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12 June 2020

issue

3

1 reference

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Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

12 June 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37476

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37476

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37476

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37476

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26842493%20AND%20SRC:MED&resulttype=core&format=json

release_ellzfd5sqzaudehxqwyp66pa5q

12 June 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ellzfd5sqzaudehxqwyp66pa5q

mapped directly with Wikidata item

24 November 2022

based on heuristic

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