Research Output per year
Research Output per year
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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 -
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer
Bajaj, L., Sharma, J., di Ronza, A., Zhang, P., Eblimit, A., Pal, R., Roman, D., Collette, J. R., Booth, C., Chang, K. T., Sifers, R. N., Jung, S. Y., Weimer, J. M., Chen, R., Schekman, R. W. & Sardiello, M., Aug 3 2020, In: Journal of Clinical Investigation. 140, 8, p. 4118-4132 15 p.Research output: Contribution to journal › Article › peer-review