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[A case of SBBYSS syndrome caused by KAT6B gene variant].
Lyu N, Shang Q, Li J, Ma C, Li D. Lyu N, et al. Among authors: li d, li j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):727-730. doi: 10.3760/cma.j.issn.1003-9406.2019.07.018. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302922 Chinese.
[Kleefstra syndrome 1 and ring chromosome 9 in a case].
Lyu N, Li D, Li J, Shang Q, Ma C. Lyu N, et al. Among authors: li d, li j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):837-840. doi: 10.3760/cma.j.issn.1003-9406.2019.08.021. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31400141 Chinese.
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L, Liu Y, Shen M, Liu Y, He R, Song J, Jin Y, Li M, Zhang Y, Dong H, Liu X, Yan H, Qin J, Zheng H, Chen Y, Li D, Wei H, Zhang H, Sun L, Zhu Z, Liang D, Yang Y. Kang L, et al. Among authors: li d, li m. J Inherit Metab Dis. 2020 May;43(3):409-423. doi: 10.1002/jimd.12183. Epub 2019 Nov 26. J Inherit Metab Dis. 2020. PMID: 31622506
[Phenotypic and genetic analysis of a boy with partial trisomy of 22q].
Zhang B, Xu Y, Kong J, Song Y, Li D. Zhang B, et al. Among authors: li d. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 May 10;37(5):532-534. doi: 10.3760/cma.j.issn.1003-9406.2020.05.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32335879 Chinese.
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
He R, Mo R, Shen M, Kang L, Song J, Liu Y, Chen Z, Zhang H, Yao H, Liu Y, Zhang Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Li D, Wei H, Li X, Zhang H, Huang M, Zhang C, Jiang Y, Liang D, Tian Y, Yang Y. He R, et al. Among authors: li d, li x, li m. Orphanet J Rare Dis. 2020 Aug 3;15(1):200. doi: 10.1186/s13023-020-01485-7. Orphanet J Rare Dis. 2020. PMID: 32746869 Free PMC article.
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
He R, Zhang H, Kang L, Li H, Shen M, Zhang Y, Mo R, Liu Y, Song J, Chen Z, Liu Y, Jin Y, Li M, Dong H, Zheng H, Li D, Qin J, Zhang H, Huang M, Liang D, Tian Y, Yao H, Yang Y. He R, et al. Among authors: li d, li h, li m. Neurology. 2020 Dec 8;95(23):e3129-e3137. doi: 10.1212/WNL.0000000000010912. Epub 2020 Sep 17. Neurology. 2020. PMID: 32943488
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