Lyu Y - Search Results

1

[A case with autosomal dominant mental retardation type 5 due to de novo SYNGAP1 variant].

Gao Z, Lyu Y, Zhang K, Gao M, Ma J, Wang D, Gai Z, Liu Y. Gao Z, et al. Among authors: lyu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jun 10;37(6):661-664. doi: 10.3760/cma.j.issn.1003-9406.2020.06.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32472547 Chinese.

2

[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. 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.

3

[Genetic analysis of two pediatric patients with Beckwith-Wiedemann syndrome].

Li X, Lyu Y, Gao M, Yan X, Meng C, Zhang K, Liu Y, Gai Z. Li X, et al. Among authors: lyu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):831-834. doi: 10.3760/cma.j.issn.1003-9406.2017.06.010. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 29188610 Chinese.

4

[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: lyu 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.

5

[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. 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.

6

[Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing].

Lyu Y, Shi C, Zhang K, Gao M, Liu Y. Lyu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):434-436. doi: 10.3760/cma.j.issn.1003-9406.2018.03.029. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29896749 Chinese.

7

[Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism].

Lyu Y, Xue N, Zhang K, Xu J, Liu Y, Gai Z. Lyu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Dec 10;35(6):836-839. doi: 10.3760/cma.j.issn.1003-9406.2018.06.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30512158 Chinese.

8

[Diagnosis of a patient with Dubin-Johnson syndrome by using next generation sequencing].

Lyu Y, Wei X, Xu J, Gao M, Zhang K, Liu Y, Gai Z. Lyu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):242-245. doi: 10.3760/cma.j.issn.1003-9406.2019.03.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30835355 Chinese.

9

[Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2].

Zhang K, Gao Z, Jin R, Lyu Y, Gao M, Gai Z, Liu Y. Zhang K, et al. Among authors: lyu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):348-351. doi: 10.3760/cma.j.issn.1003-9406.2019.04.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30950023 Chinese.

10

[Niemann-Pick disease type C caused by NPC1 mutation in a case].

Zhang G, Yu F, Zhang K, Li F, Lyu Y, Gao M, Gai Z, Liu Y. Zhang G, et al. Among authors: lyu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):480-483. doi: 10.3760/cma.j.issn.1003-9406.2019.05.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31030438 Chinese.

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