(Q41926177)

14 October 2017

Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status (English)

1 reference

14 October 2017

1 reference

1 reference

C Ellaway

1

1 reference

14 October 2017

T Buchholz

2

1 reference

14 October 2017

A Smith

3

1 reference

14 October 2017

H Leonard

4

1 reference

14 October 2017

J Christodoulou

5

1 reference

14 October 2017

1 September 1998

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Journal of Child Neurology

14 October 2017

1 reference

14 October 2017

13

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14 October 2017

9

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14 October 2017

448-451

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Rett syndrome: clinical peculiarities and biological mysteries

14 October 2017

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

Genetic aspects of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

Rett syndrome: genetic clues based on mitochondrial changes in muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

Rett syndrome studies of natural history and search for a genetic marker

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

Electroclinical diagnosis of Angelman syndrome: a study of 7 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

An Angelman syndrome clinic: report on 24 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

‘Puppet’ Children A Report on Three Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300907

10.1177/088307389801300907

21 January 2018

Identifiers

DOI

0 references

1 reference