(Q30613694)

25 June 2017

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome (English)

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25 June 2017

B Schweiger

17

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Marcel Martin

object named as

M Martin

15

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author name string

J C Czeschik

1

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25 June 2017

C Voigt

2

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25 June 2017

Y Alanay

3

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25 June 2017

B Albrecht

4

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25 June 2017

S Avci

5

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25 June 2017

D Fitzpatrick

6

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25 June 2017

D R Goudie

7

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25 June 2017

U Hehr

8

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25 June 2017

A J Hoogeboom

9

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25 June 2017

H Kayserili

10

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25 June 2017

P O Simsek-Kiper

11

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25 June 2017

L Klein-Hitpass

12

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25 June 2017

A Kuechler

13

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25 June 2017

V López-González

14

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25 June 2017

S Rahmann

16

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25 June 2017

M Splitt

18

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25 June 2017

B Wollnik

19

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25 June 2017

H-J Lüdecke

20

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25 June 2017

M Zeschnigk

21

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25 June 2017

D Wieczorek

22

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25 June 2017

language of work or name

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9 April 2013

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25 June 2017

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25 June 2017

132

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25 June 2017

885-898

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25 June 2017

8

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https://scigraph.springernature.com/pub.10.1007/s00439-013-1295-2

25 June 2017

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cites work

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Modernizing reference genome assemblies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Nager acrofacial dysostosis: management of a difficult airway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Anaesthetic implications of Nager syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Otologic and audiologic features of Nager acrofacial dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Nager acrofacial dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1295-2

Nager acrofacial dysostosis: evidence for apparent heterogeneity

21 January 2018

1 reference

12 December 2020

Nager syndrome: a case report

1 reference

12 December 2020

Autosomal recessive inheritance of Nager acrofacial dysostosis

1 reference

12 December 2020

Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome

1 reference

12 December 2020

10.1007/S00439-013-1295-2

Identifiers

DOI

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Dimensions Publication ID

25 June 2017

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1 reference