(Q45122849)

9 December 2017

title

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. (English)

1 reference

9 December 2017

main subject

Floating-Harbor syndrome

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8

Patrick Nitschke

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Carine Le Goff

object named as

Carine Le Goff

1

0 references

Valérie Cormier-Daire

object named as

Valérie Cormier-Daire

11

0 references

Arnold Munnich

9

object named as

Arnold Munnich

1 reference

9 December 2017

2

Clémentine Mahaut

1 reference

9 December 2017

7

Sylvie Odent

1 reference

9 December 2017

5

Alice Goldenberg

1 reference

9 December 2017

Armand Bottani

3

1 reference

9 December 2017

Berenice Doray

4

1 reference

9 December 2017

Anne Moncla

6

1 reference

9 December 2017

Patrick Nitschke

8

1 reference

9 December 2017

Laurence Faivre

10

1 reference

9 December 2017

publication date

16 October 2012

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9 December 2017

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9 December 2017

volume

34

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9 December 2017

issue

1

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9 December 2017

page(s)

88-92

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Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

9 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

Purification of a human SRCAP complex that remodels chromatin by incorporating the histone variant H2A.Z into nucleosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

The phenotype of Floating-Harbor syndrome in 10 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22216

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22216

1 reference

9 December 2017

1 reference