(Q54411907)

29 May 2018

https://api.crossref.org/works/10.1002/AJMG.A.33611

title

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome (English)

1 reference

10 July 2024

author name string

Stephanie Newton

3

1 reference

29 May 2018

Zhenyuan Wang

4

1 reference

29 May 2018

Seema M. Jamal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20830798

10 July 2024

Raveen K. Basran

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20830798

10 July 2024

Jeff M. Milunsky

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20830798

10 July 2024

language of work or name

English

0 references

publication date

1 October 2010

1 reference

29 May 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33611

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33611

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33611

10 July 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33611

American Journal of Medical Genetics

10 July 2024

published in

1 reference

29 May 2018

volume

152A

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29 May 2018

issue

10

1 reference

29 May 2018

page(s)

2475-2481

1 reference

29 May 2018

Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree

cites work

https://api.crossref.org/works/10.1002/AJMG.A.33611

2

1 reference

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

10 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33611

4

1 reference

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

10 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33611

5

1 reference

A new familial form of convulsive disorder and mental retardation limited to females

10 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33611

6

1 reference

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

10 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33611

7

1 reference

Epilepsy and mental retardation limited to females: an under-recognized disorder

10 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33611

8

1 reference

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

10 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33611

9

1 reference

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

10 July 2024

https://api.crossref.org/works/10.1002/AJMG.A.33611

10

1 reference

10 July 2024

Identifiers

DOI

10.1002/AJMG.A.33611

1 reference

29 May 2018

1 reference

29 May 2018