Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.
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Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewSHORT syndrome in a two-year-old girl - case report.Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor.Mice Carrying a Dominant-Negative Human PI 3-Kinase Mutation are Protected From Obesity and Hepatic Steatosis But Not Diabetes.
P2860
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P2860
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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2015年學術文章
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2015年學術文章
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name
Clinical reappraisal of SHORT ...... ecular testing and management.
@en
Clinical reappraisal of SHORT ...... ecular testing and management.
@nl
type
label
Clinical reappraisal of SHORT ...... ecular testing and management.
@en
Clinical reappraisal of SHORT ...... ecular testing and management.
@nl
prefLabel
Clinical reappraisal of SHORT ...... ecular testing and management.
@en
Clinical reappraisal of SHORT ...... ecular testing and management.
@nl
P2093
P2860
P50
P356
P1433
P1476
Clinical reappraisal of SHORT ...... ecular testing and management.
@en
P2093
A Micheil Innes
Ainhoa Abad Lopez
Assunta Albanese
Bernard Le Luyer
Brian H Y Chung
Christel Thauvin-Robinet
Christine Binquet
Corinne Vigouroux
Cynthia J Curry
Cédric Fagour
P2860
P356
10.1111/CGE.12688
P577
2015-10-24T00:00:00Z