SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (Q29465800)

17 October 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (English)

1 reference

Structural maintenance of chromosomes flexible hinge domain containing 1

17 October 2017

1 reference

GOA release 2020-03-11

nose development

1 reference

GOA release 2020-03-11

muscular dystrophy

1 reference

BOSMA Arhinia Microphthalmia Syndrome

inferred from title

1 reference

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

inferred from title

corrigendum / erratum

0 references

author

Serkan Erdin

7

1 reference

17 October 2017

55

1 reference

17 October 2017

64

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17 October 2017

70

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17 October 2017

77

1 reference

17 October 2017

Catarina M Seabra

23

0 references

Margaret F Lippincott

Margaret F Lippincott

30

0 references

Natalie D. Shaw

Natalie D Shaw

1

0 references

Ryan L Collins

Ryan L Collins

14

0 references

0 references

Kaitlin Samocha

11

0 references

Lisa A Schimmenti

Lisa A Schimmenti

46

0 references

Michael E. Talkowski

Michael E Talkowski

78

0 references

Steven A Moore

Steven A Moore

67

0 references

Takako I. Jones

6

0 references

Peter L. Jones

74

0 references

Angela Kaindl

57

Angela M Kaindl

1 reference

17 October 2017

36

Alain Verloes

1 reference

17 October 2017

69

James F Gusella

1 reference

17 October 2017

5

Lacey Plummer

1 reference

17 October 2017

65

Stephanie B Seminara

1 reference

17 October 2017

75

William F Crowley

1 reference

17 October 2017

Veronica van Heyningen

1 reference

ORCID Public Data File 2021

Cynthia Morton

59

Cynthia C Morton

1 reference

17 October 2017

19

Shahrin Pereira

1 reference

17 October 2017

2

Harrison Brand

1 reference

17 October 2017

21

Diane Lucente

1 reference

17 October 2017

10

Alexei Stortchevoi

1 reference

17 October 2017

12

Benjamin B Currall

1 reference

17 October 2017

20

Tammy Kammin

1 reference

17 October 2017

24

Colby Chiang

1 reference

17 October 2017

52

Jodi D Hoffman

1 reference

17 October 2017

73

Nicholas Katsanis

1 reference

17 October 2017

Zachary A Kupchinsky

3

1 reference

17 October 2017

Hemant Bengani

4

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17 October 2017

Kathleen A Williamson

8

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17 October 2017

Joe Rainger

9

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17 October 2017

Donncha S Dunican

13

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17 October 2017

Jason R Willer

15

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17 October 2017

Angela Lek

16

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17 October 2017

Monkol Lek

17

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17 October 2017

Malik Nassan

18

1 reference

17 October 2017

Alexandra Silva

22

1 reference

17 October 2017

Yu An

25

1 reference

17 October 2017

Morad Ansari

26

1 reference

17 October 2017

Jacqueline K Rainger

27

1 reference

17 October 2017

Shelagh Joss

28

1 reference

17 October 2017

Jill Clayton Smith

29

1 reference

17 October 2017

Sylvia S Singh

31

1 reference

17 October 2017

Nirav Patel

32

1 reference

17 October 2017

Jenny W Jing

33

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17 October 2017

Jennifer R Law

34

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17 October 2017

Nalton Ferraro

35

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17 October 2017

Katharina Steindl

38

1 reference

17 October 2017

Markus Zweier

39

1 reference

17 October 2017

Ianina Scheer

40

1 reference

17 October 2017

Daisuke Sato

41

1 reference

17 October 2017

Nobuhiko Okamoto

42

1 reference

17 October 2017

Christina Jacobsen

43

1 reference

17 October 2017

Jeanie Tryggestad

44

1 reference

17 October 2017

Steven Chernausek

45

1 reference

17 October 2017

Benjamin Brasseur

47

1 reference

17 October 2017

Jose E García-Ortiz

49

1 reference

17 October 2017

Tatiana Pineda Buitrago

50

1 reference

17 October 2017

Orlando Perez Silva

51

1 reference

17 October 2017

Wolfgang Mühlbauer

53

1 reference

17 October 2017

Klaus W Ruprecht

54

1 reference

17 October 2017

Masato Shino

56

1 reference

17 October 2017

Chie-Hee Cho

58

1 reference

17 October 2017

Richard R Meehan

60

1 reference

17 October 2017

Eric C Liao

62

1 reference

17 October 2017

Ravikumar Balasubramanian

63

1 reference

17 October 2017

Daniel Macarthur

66

1 reference

17 October 2017

Koh-Ichiro Yoshiura

68

1 reference

17 October 2017

John M Graham

71

1 reference

17 October 2017

Angela E Lin

72

1 reference

17 October 2017

Erica E Davis

76

1 reference

17 October 2017

language of work or name

English

0 references

publication date

9 January 2017

1 reference

17 October 2017

1 reference

17 October 2017

49

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17 October 2017

2

1 reference

17 October 2017

238-248

1 reference

describes a project that uses

17 October 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5473428/fullTextXML

inferred from PubMed Central ID database lookup

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Identifiers

DOI

10.1038/NG.3743

1 reference

Dimensions Publication ID

17 October 2017

0 references

1 reference

17 October 2017

PubMed publication ID

28067909

1 reference