Liu Z - Search Results

1

Whole-exome sequencing establishes a diagnosis of Alstrom syndrome: a case report.

Liu Z, Chen X. Liu Z, et al. Transl Pediatr. 2022 Apr;11(4):589-594. doi: 10.21037/tp-21-623. Transl Pediatr. 2022. PMID: 35558979 Free PMC article.

2

[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].

Gao ZJ, Jiang Q, Chen Q, Xu KM, Liu ZQ, Chen XB, Chen XL. Gao ZJ, et al. Among authors: liu zq. Zhonghua Er Ke Za Zhi. 2017 Nov 2;55(11):824-829. doi: 10.3760/cma.j.issn.0578-1310.2017.11.007. Zhonghua Er Ke Za Zhi. 2017. PMID: 29141312 Chinese.

3

[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].

Liu ZQ, Chen XB, Song FY, Gao K, Qiu MF, Qian Y, Du M. Liu ZQ, et al. Zhonghua Er Ke Za Zhi. 2017 Nov 2;55(11):858-861. doi: 10.3760/cma.j.issn.0578-1310.2017.11.014. Zhonghua Er Ke Za Zhi. 2017. PMID: 29141319 Chinese.

4

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome.

Liu Z, Chen X. Liu Z, et al. J Clin Res Pediatr Endocrinol. 2020 Jun 3;12(2):212-217. doi: 10.4274/jcrpe.galenos.2019.2018.0309. Epub 2019 Aug 26. J Clin Res Pediatr Endocrinol. 2020. PMID: 31448886 Free PMC article.

5

[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].

Wang Y, Zhu Y, Bai J, Liu Z, Chen X. Wang Y, et al. Among authors: liu z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10;37(10):1158-1161. doi: 10.3760/cma.j.cn511374-20190610-00287. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32924125 Chinese.

6

A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.

Jia H, Ma T, Liu Z, Ouyang Y, Hao C. Jia H, et al. Among authors: liu z. Transl Pediatr. 2021 May;10(5):1377-1385. doi: 10.21037/tp-21-26. Transl Pediatr. 2021. PMID: 34189097 Free PMC article.

7

Progressive pseudorheumatoid dysplasia: a case series report.

Liu Z, Chen X. Liu Z, et al. Transl Pediatr. 2021 Jul;10(7):1932-1939. doi: 10.21037/tp-21-152. Transl Pediatr. 2021. PMID: 34430442 Free PMC article.

8

[Siblings Seckel's syndrome 1 caused by ATR gene variants in a sibpair].

Qiu M, Liu Z, Chen X. Qiu M, et al. Among authors: liu z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):973-976. doi: 10.3760/cma.j.cn511374-20200415-00268. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34625935 Chinese.

9

[Clinical and genetic characteristics of congenital isolated adrenocorticotropic hormone deficiency].

Du M, Liu ZQ, Song FY, Qian K, Chen XB. Du M, et al. Among authors: liu zq. Zhonghua Er Ke Za Zhi. 2022 Jul 2;60(7):706-709. doi: 10.3760/cma.j.cn112140-20211222-01067. Zhonghua Er Ke Za Zhi. 2022. PMID: 35768360 Chinese.

10

[Clinical and genetic analysis of a patient with isolated 17,20 lyase deficiency presenting with pubertal gynecomastia].

Yin H, Chen X, Liu Z, Song F, Gao K, Kong X, Chen B. Yin H, et al. Among authors: liu z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):718-721. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35810428 Chinese.

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