|
|
| CrossRef Text and Data Mining | |
| Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining. | |
| Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity | |
| Minji Im, Ari Song, Jiyeon Kim, Min-Sun Kim, Sae-Mi Lee, Mi Jin Kim, Sung Yoon Cho, Dong-Kyu Jin | |
|
Ann Pediatr Endocrinol Metab. 2022;27(3):229-235. Published online October 18, 2021 DOI: https://doi.org/10.6065/apem.2142042.021 |
|
|
Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity Annals of Pediatric Endocrinology & Metabolism. 2022;27(3):229-235  Targeted Hotspot Gene Panel Using Massively Parallel Sequencing (Next Generation Sequencing) Diagnostic Pathology: Molecular Oncology. 2016;4-20-4-21 Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus Journal of Molecular Cell Biology. 2023; A Custom Targeted Next-Generation Sequencing Gene Panel for the Diagnosis of Genetic Nephropathies American Journal of Kidney Diseases. 2016;67(6):992-993 Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel The Korean Journal of Gastroenterology. 2021;78(4):240-244 Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases Digestive and Liver Disease. 2023;55:S11-S12 Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease Clinical Biochemistry. 2016;49(1-2):166-171 A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy Gene. 2012;498(1):131-133 Eight cases of incidentally diagnosed as subclinical rickets Korean Journal of Pediatrics. 2008;51(8):812 12 Gene Pancreatitis Susceptibility Panel: Clinical Validation of a Targeted, High-Fidelity, Next Generation Sequencing Approach Gastroenterology. 2017;152(5):S900 |
