(Q52009980)

English

Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.

scientific article published in October 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

1 reference

based on heuristic

inferred from title

author name string

Elizabeth A Parker

1

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

Karine Hovanes

2

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

John Germak

3

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

Forbes Porter

4

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

Deborah P Merke

5

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

language of work or name

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publication date

1 October 2006

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

140

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

20

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

2236-2240

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

Origin of uniparental disomy 6: presentation of a new case and review on the literature

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31408

21 January 2018

Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.31408

21 January 2018

Identifiers

10.1002/AJMG.A.31408

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16906568

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