A mutation screen in patients with Kabuki syndrome (Q34186982)

31 July 2017

title

A mutation screen in patients with Kabuki syndrome (English)

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Gabriele Gillessen-Kaesbach

31 July 2017

author

20

object named as

Gabriele Gillessen-Kaesbach

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Gökhan Yigit

21

object named as

Gökhan Yigit

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Bernd Wollnik

23

object named as

Bernd Wollnik

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31 July 2017

Yun Li

1

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31 July 2017

Nina Bögershausen

2

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31 July 2017

Yasemin Alanay

3

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31 July 2017

Pelin Ozlem Simsek Kiper

4

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31 July 2017

Nadine Plume

5

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31 July 2017

Katharina Keupp

6

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31 July 2017

Esther Pohl

7

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31 July 2017

Barbara Pawlik

8

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31 July 2017

Martin Rachwalski

9

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31 July 2017

Esther Milz

10

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31 July 2017

Michaela Thoenes

11

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31 July 2017

Beate Albrecht

12

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31 July 2017

Eva-Christina Prott

13

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31 July 2017

Margret Lehmkühler

14

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31 July 2017

Stephanie Demuth

15

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31 July 2017

Gülen Eda Utine

16

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31 July 2017

Koray Boduroglu

17

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31 July 2017

Katja Frankenbusch

18

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31 July 2017

Guntram Borck

19

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31 July 2017

Dagmar Wieczorek

22

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31 July 2017

publication date

24 May 2011

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31 July 2017

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31 July 2017

volume

130

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31 July 2017

issue

6

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31 July 2017

page(s)

715-724

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Kabuki syndrome: a review

31 July 2017

cites work

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https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Binding of the MLL PHD3 finger to histone H3K4me3 is required for MLL-dependent gene transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Clinical genetics of Kallmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

BCOR regulates mesenchymal stem cell function by epigenetic mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Epigenetics and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Kabuki make-up syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1004-Y

Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

21 January 2018

1 reference

12 December 2020

Genetic and epigenetic findings in Silver-Russell syndrome

1 reference

12 December 2020

Beckwith–Wiedemann syndrome

1 reference

12 December 2020

Kabuki syndrome and trisomy 10p.

1 reference

12 December 2020

10.1007/S00439-011-1004-Y

Identifiers

DOI

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Dimensions Publication ID

31 July 2017

1008450154

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Fatcat ID

release_ee5wij4bqnh7vlr32vn63dg6ha

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Fatcat

https://api.fatcat.wiki/v0/release/ee5wij4bqnh7vlr32vn63dg6ha

24 November 2022

mapped directly with Wikidata item

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