Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

Item
http://www.wikidata.org/entity/Q43641976
The role and interaction of imprinted genes in human fetal growthSpargel/dPGC-1 is a new downstream effector in the insulin-TOR signaling pathway in Drosophila.Growth hormone, insulin-like growth factor-1 and the aging brain.Involvement of Igf1r in Bronchiolar Epithelial Regeneration: Role during Repair Kinetics after Selective Club Cell Ablation.Truncation of POC1A associated with short stature and extreme insulin resistanceExpanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.Genetics of Short Stature.A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.Neurotrophic and Neuroregenerative Effects of GH/IGF1.The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss.Insulin-like growth factors: actions on the skeleton.
P2860

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

Item
http://www.wikidata.org/entity/Q43641976
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Homozygous mutation of the IGF ...... and congenital malformations.
@en
Homozygous mutation of the IGF ...... and congenital malformations.
@nl
type
label
Homozygous mutation of the IGF ...... and congenital malformations.
@en
Homozygous mutation of the IGF ...... and congenital malformations.
@nl
prefLabel
Homozygous mutation of the IGF ...... and congenital malformations.
@en
Homozygous mutation of the IGF ...... and congenital malformations.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Homozygous mutation of the IGF ...... and congenital malformations.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P921