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List of works by Dong Li

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family

scientific article published on 08 June 2020

CYP3A4 mutation causes vitamin D-dependent rickets type 3

scientific article published on 03 April 2018

Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis

scientific article published on 05 October 2020

Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

scientific article published in 2022

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

scientific article published on 01 November 2018

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

scientific article published on 03 October 2020

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

scholarly article by Dong Li published in June 2018

The chromatin remodeler ISWI acts during <i>Drosophila</i> development to regulate adult sleep

scientific article published on 17 February 2021

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

scholarly article by Emanuele Barca published in October 2018

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