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Gut and Liver|October 28, 2015
Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?Seak Hee Oh, Jiwon Baek, Kyung Mo Kim, et al.Human Molecular Genetics|August 4, 2020
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specializationHelen J Kuht, Jinu Han, Gail D E Maconachie, et al.JAMA Network Open|May 31, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal DiseasesDongheon Surl, Dongju Won, Seung-Tae Lee, et al.Journal of Medical Genetics|October 26, 2019
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsyYoon-Myung Kim, Mi-Sun Yum, Sun Hee Heo, et al.Neuro-Oncology|July 8, 2024
Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibromaHyery Kim, Hee Mang Yoon, Eun Key Kim, et al.Pageof 5