Genome sequencing and implications for rare disorders-Reference-Cited by-同舟云学术

Genome sequencing and implications for rare disorders

Published:2019-06-24 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Posey Jennifer E.^ORCID

Funder

National Human Genome Research Institute

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1127-0.pdf

Reference109 articles.

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4. Ayme S, Urbero B, Oziel D, Lecouturier E, Biscarat AC. Information on rare diseases: the Orphanet project. Rev Med Interne. 1998;19(Suppl 3):376S–7S.

5. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998;14(10):417–22.

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