Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
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Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics.6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.First Case Report of Prader-Willi-Like Syndrome in Colombia.Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
P2860
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
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name
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
@ast
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
@en
type
label
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
@ast
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
@en
prefLabel
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
@ast
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
@en
P2093
P2860
P50
P356
P1476
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
@en
P2093
Aimé Ravel
Alexandre Moerman
Alice Masurel
Anne Moncla
Anne-Claude Tabet
Anne-Lise Delezoide
Brigitte Benzacken
Bruno Delobel
Chantal Missirian
Christelle Dubourg
P2860
P2888
P304
P356
10.1038/EJHG.2014.230
P50
P577
2014-11-05T00:00:00Z