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2017
(4)
2016
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PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability:
in Vivo
and
in Vitro
Evidence.
Not available
S-EPMC6009608
|
biostudies-literature
Cite
A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Not available
S-EPMC4329776
|
biostudies-literature
Cite
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.
Not available
S-EPMC4891295
|
biostudies-literature
Cite
Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.
Not available
S-EPMC5698139
|
biostudies-literature
Cite
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
Not available
S-EPMC4184067
|
biostudies-literature
Cite
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
Not available
S-EPMC5135661
|
biostudies-literature
Cite
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
Not available
S-EPMC5509495
|
biostudies-literature
Cite
Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density.
Not available
S-EPMC5718699
|
biostudies-literature
Cite
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Not available
S-EPMC4908149
|
biostudies-literature
Cite
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
Not available
S-EPMC4422886
|
biostudies-literature
Cite
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