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List of works by Beom Hee Lee

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.

scientific article

Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature

scientific article published on 13 October 2020

Biochemical and molecular characterisation of neurological Wilson disease

scientific article published on 04 April 2018

Chylous Manifestations and Management of Gorham-Stout Syndrome

scientific article published on 05 February 2019

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

scientific article published on 20 November 2020

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

scientific article published on 26 March 2022

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

scientific article published on 09 September 2020

Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia

scientific article published in 2021

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

scientific article published on 23 August 2017

Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria

scientific article published on February 2017

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

scientific article published on 11 September 2019

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

scientific article published on 24 October 2019

Psychological Impact of Quarantine on Caregivers at a Children's Hospital for Contact with Case of COVID-19

scientific article published on 20 July 2020

Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure

scientific article published on 01 March 2018

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

scientific article published on 29 June 2017

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