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Items: 3

1.
Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology
Christiane S. Hampe, Julie B. Eisengart, Troy C. Lund, Paul J. Orchard, Monika Swietlicka, Jacob Wesley, R. Scott McIvor
Cells. 2020 Aug; 9(8): 1838. Published online 2020 Aug 5. doi: 10.3390/cells9081838
PMCID:
PMC7463646
AbstractArticlePDF–1.5M
2.
A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report
Jin Young Ko, Minyong Lee, Ja-Hyun Jang, Dae-Hyun Jang, Ju Seok Ryu
Medicine (Baltimore) 2019 Jul; 98(28): e16389. Published online 2019 Jul 12. doi: 10.1097/MD.0000000000016389
PMCID:
PMC6641756
AbstractArticlePDF–882K
3.
Recurrent BCOR Internal Tandem Duplication and YWHAE-NUTM2B Fusions in Soft Tissue Undifferentiated Round Cell Sarcoma of Infancy – Overlapping Genetic Features with Clear Cell Sarcoma of Kidney
Yu-Chien Kao, Yun-Shao Sung, Lei Zhang, Shih-Chiang Huang, Pedram Argani, Catherine T Chung, Nicole S. Graf, Dale C. Wright, Stewart J. Kellie, Narasimhan P Agaram, Kathrin Ludwig, Angelica Zin, Rita Alaggio, Cristina R. Antonescu
Am J Surg Pathol. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Am J Surg Pathol. 2016 Aug; 40(8): 1009–1020. doi: 10.1097/PAS.0000000000000629
PMCID:
PMC4942366
AbstractArticlePDF–3.3M

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