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List of works by Lingqian Wu

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree

scientific article published on 14 January 2020

Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers

scientific article published on 01 January 2021

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in

scientific article published on 15 November 2018

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

scientific article published on 15 June 2020

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4

scientific article published on 15 April 2020

Molecular investigation in Chinese patients with primary carnitine deficiency

scientific article published on 30 July 2019

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

article

Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome

scientific article published on 03 October 2020

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis

scientific article published on 22 September 2020

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome

scientific article published on 15 April 2019

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