نتائج البحث - Michael A. Derr
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Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay حسب Fang Peng, I. David Schwartz, Betty D. Johnson, Michael A. Derr, Charles T. Roberts, Vivian Hwa, Ron G. Rosenfeld
منشور في 2009Artigo -
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Large-Scale Pooled Next-Generation Sequencing of 1077 Genes to Identify Genetic Causes of Short Stature حسب Sophie R. Wang, Heather Carmichael, Shayne F. Andrew, Timothy C. Miller, Jennifer Moon, Michael A. Derr, Vivian Hwa, Joel N. Hirschhorn, Andrew Dauber
منشور في 2013Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Endocrinology
Gene
Genetics
Medicine
Short stature
Growth factor
Insulin-like growth factor
Insulin-like growth factor 1 receptor
Internal medicine
Mutation
Receptor
Candidate gene
Compound heterozygosity
DNA sequencing
Dwarfism
Exon
Fetus
Frameshift mutation
Genetic testing
Genome
Haploinsufficiency
In utero
Missense mutation
Nonsynonymous substitution
Noonan syndrome
Phenotype
Pregnancy
Tyrosine kinase