Contact information
Colleges
Yuqi Shen
Postdoctoral Researcher
Recent publications
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Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.
Journal article
Shen Y. et al, (2021), Front Genet, 12
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Slc20a2-Deficient Mice Exhibit Multisystem Abnormalities and Impaired Spatial Learning Memory and Sensorimotor Gating but Normal Motor Coordination Abilities.
Journal article
Ren Y. et al, (2021), Front Genet, 12
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[Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia].
Journal article
Meng X. et al, (2018), Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 35, 783 - 786
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17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
Journal article
Shen Y. et al, (2018), Orphanet J Rare Dis, 13
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An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: The use of minigene assay in splicing analysis
Journal article
Xiao Y. et al, (2015), Clinica Chimica Acta, 442, 84 - 86