Gai Z - Search Results

1

Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.

Wang Y, Lv Y, Li Z, Gao M, Yang X, Li Y, Shi J, Gao Z, Liu Y, Gai Z. Wang Y, et al. Among authors: gai z. Front Genet. 2022 Dec 13;13:957915. doi: 10.3389/fgene.2022.957915. eCollection 2022. Front Genet. 2022. PMID: 36583017 Free PMC article.

2

[Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation].

Meng C, Zhang KH, Ma J, Gao X, Yu K, Zhang HY, Wang Y, Zhang ZX, Li WG, Liu Y, Gai ZT. Meng C, et al. Among authors: gai zt. Zhonghua Er Ke Za Zhi. 2017 Feb 2;55(2):131-134. doi: 10.3760/cma.j.issn.0578-1310.2017.02.015. Zhonghua Er Ke Za Zhi. 2017. PMID: 28173652 Chinese.

3

[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: gai z. 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.

4

[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy].

Zhang K, Huang Y, Gai Z, Liu Y. Zhang K, et al. Among authors: gai z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Oct 10;35(5):694-698. doi: 10.3760/cma.j.issn.1003-9406.2018.05.017. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30298498 Chinese.

5

[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. Among authors: gai z. 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.

6

[Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency].

Zhang H, Lang Y, Zhang K, Li X, Liu Y, Gai Z. Zhang H, et al. Among authors: gai z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Dec 10;35(6):848-851. doi: 10.3760/cma.j.issn.1003-9406.2018.06.017. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30512161 Chinese.

7

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: gai z. 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

8

[Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis].

Gao M, Jin R, Zhang K, Li Z, Gai Z, Liu Y. Gao M, et al. Among authors: gai z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):128-131. doi: 10.3760/cma.j.issn.1003-9406.2019.02.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30703229 Chinese.

9

[Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing].

Shen N, Meng C, Liu Y, Gai Z. Shen N, et al. Among authors: gai z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):225-228. doi: 10.3760/cma.j.issn.1003-9406.2019.03.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30835351 Chinese.

10

[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. Among authors: gai z. 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.

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