Liu Y - Search Results

1

Hydrocephalus in cblC type methylmalonic acidemia.

Zhang K, Gao M, Wang G, Shi Y, Li X, Lv Y, Zhang G, Gai Z, Liu Y. Zhang K, et al. Among authors: liu y. Metab Brain Dis. 2019 Apr;34(2):451-458. doi: 10.1007/s11011-018-0351-y. Epub 2018 Dec 19. Metab Brain Dis. 2019. PMID: 30564975

2

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.

Li X, Yang Y, Gao Q, Gao M, Lv Y, Dong R, Liu Y, Zhang K, Gai Z. Li X, et al. Among authors: liu y. Metab Brain Dis. 2018 Jun;33(3):741-751. doi: 10.1007/s11011-017-0168-0. Epub 2018 Jan 6. Metab Brain Dis. 2018. PMID: 29307017

3

Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene.

Guan J, Li Z, Zhang H, Yang X, Ma Y, Li Y, Dong R, Gai Z, Liu Y. Guan J, et al. Among authors: liu y. Stem Cell Res. 2020 Mar;43:101709. doi: 10.1016/j.scr.2020.101709. Epub 2020 Jan 16. Stem Cell Res. 2020. PMID: 32058304 Free article.

4

[Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].

Lyu Y, Huang J, Zhang K, Liu G, Gao M, Gai Z, Liu Y. Lyu Y, et al. Among authors: liu y, liu g. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):73-77. doi: 10.3760/cma.j.issn.1003-9406.2017.01.017. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28186599 Chinese.

5

[Analysis of genetic etiology of a female with 47,XXY syndrome].

Li H, Zhang K, Gao M, Zhang H, Wang Y, Zhang Y, Liu Y, Gai Z. Li H, et al. Among authors: liu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):102-105. doi: 10.3760/cma.j.issn.1003-9406.2017.01.024. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28186606 Chinese.

6

Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.

Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. Zhang K, et al. Among authors: liu y. Clin Dysmorphol. 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. Clin Dysmorphol. 2017. PMID: 28505061 Review.

7

[Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].

Xu J, Gao M, Lyu Y, Tang Y, Wei X, Yang L, Zhang K, Liu Y, Gai Z. Xu J, et al. Among authors: liu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):34-38. doi: 10.3760/cma.j.issn.1003-9406.2018.01.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29419856 Chinese.

8

[Analysis of a patient with X-linked mental retardation by next generation sequencing].

Lyu Y, Yang Y, Liu Y, Gai Z. Lyu Y, et al. Among authors: liu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):257-260. doi: 10.3760/cma.j.issn.1003-9406.2018.02.025. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29653005 Chinese.

9

[Diagnose of a neonate with X-linked thrombocytopenia by next generation sequencing].

Gao M, Kang L, Liu Y, Gai Z. Gao M, et al. Among authors: liu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):422-425. doi: 10.3760/cma.j.issn.1003-9406.2018.03.026. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29896746 Chinese.

10

[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].

Zhang K, Li H, Li X, Liu Y, Gai Z. Zhang K, et al. Among authors: liu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):548-552. doi: 10.3760/cma.j.issn.1003-9406.2018.04.020. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30098254 Chinese.

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