(Q50790699)

English

Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.

scientific article published in May 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

1 reference

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inferred from title

author name string

S Das

1

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

Sherri J Bale

2

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

David H Ledbetter

3

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

language of work or name

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publication date

1 May 2008

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

10

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

5

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

332-336

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

https://scigraph.springernature.com/pub.10.1097/gim.0b013e318172838d

0 references

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318172838D

21 January 2018

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318172838D

21 January 2018

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318172838D

21 January 2018

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318172838D

21 January 2018

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318172838D

21 January 2018

Identifiers

10.1097/GIM.0B013E318172838D

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 March 2018

http://europepmc.org/abstract/MED/18496031

ResearchGate publication ID

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