Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
about
Location-dependent signaling of the group 1 metabotropic glutamate receptor mGlu5.A novel, sensitive assay for behavioral defects in Parkinson's disease model DrosophilaEMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersA novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health.Group 1 metabotropic glutamate receptor function and its regulation of learning and memory in the aging brainIntragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
P2860
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P2860
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Clinical utility gene card for ...... primary ovarian insufficiency
@ast
Clinical utility gene card for ...... primary ovarian insufficiency
@en
type
label
Clinical utility gene card for ...... primary ovarian insufficiency
@ast
Clinical utility gene card for ...... primary ovarian insufficiency
@en
prefLabel
Clinical utility gene card for ...... primary ovarian insufficiency
@ast
Clinical utility gene card for ...... primary ovarian insufficiency
@en
P2093
P2860
P356
P1476
Clinical utility gene card for ...... primary ovarian insufficiency
@en
P2093
Peter Steinbach
Sebastien Jacquemont
Silke Redler
Stefanie Birnbaum
Valérie Biancalana
P2860
P2888
P304
P356
10.1038/EJHG.2011.55
P577
2011-05-04T00:00:00Z