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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2019 | 2 |
2020 | 1 |
2022 | 1 |
2024 | 0 |
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Clinical and genetic features of four patients with Pearson syndrome: An observational study.
Medicine (Baltimore). 2022 Feb 4;101(5):e28793. doi: 10.1097/MD.0000000000028793.
Medicine (Baltimore). 2022.
PMID: 35119049
Free PMC article.
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E, Kim YM, Seo GH, Oh A, Yoon HM, Ra YS, Kim EK, Kim H, Heo SH, Kim GH, Osborn MJ, Tolar J, Yoo HW, Lee BH.
Kang E, et al.
J Hum Genet. 2020 Jan;65(2):79-89. doi: 10.1038/s10038-019-0695-0. Epub 2019 Nov 28.
J Hum Genet. 2020.
PMID: 31776437
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Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
Kang E, Kim T, Oh A, Yum MS, Keum C, Yoo HW, Lee BH.
Kang E, et al.
J Hum Genet. 2019 Nov;64(11):1137-1140. doi: 10.1038/s10038-019-0657-6. Epub 2019 Aug 19.
J Hum Genet. 2019.
PMID: 31427715
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