Research output per year
Research output per year
Fingerprint
Dive into the research topics where Pediatrics Genetics & Genomic Medicine is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
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Profiles
Research output
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Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype
Shepherdson, J. L., Zheng, H., Amarillo, I. E., McAlinden, A. & Shinawi, M., Jan 2021, In: Bone. 142, 115705.Research output: Contribution to journal › Article › peer-review
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Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease
Wang, R. Y., Rudser, K. D., Dengel, D. R., Evanoff, N., Steinberger, J., Movsesyan, N., Garrett, R., Christensen, K., Boylan, D., Braddock, S. R., Shinawi, M., Gan, Q. & Montanõ, A. M., Mar 17 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 73.Research output: Contribution to journal › Article › peer-review
Open Access -
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Undiagnosed Diseases Network, 2020, (Accepted/In press) In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
Open Access