Gong Z - Search Results

1

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Zhang H, Wang Y, Gong Z, Li X, Qiu W, Han L, Ye J, Gu X. Zhang H, et al. Among authors: gong z. Orphanet J Rare Dis. 2013 Jan 28;8:15. doi: 10.1186/1750-1172-8-15. Orphanet J Rare Dis. 2013. PMID: 23356216 Free PMC article.

2

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.

Zhang H, Gao J, Ye J, Gong Z, Gu X. Zhang H, et al. Among authors: gong z. Eur J Med Genet. 2011 Jul-Aug;54(4):e389-93. doi: 10.1016/j.ejmg.2011.03.012. Epub 2011 Apr 6. Eur J Med Genet. 2011. PMID: 21477668

3

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.

Ye J, Zhang HW, Qiu WJ, Han LS, Zhang YF, Gong ZW, Gu XF. Ye J, et al. Mol Med Rep. 2012 Jan;5(1):190-5. doi: 10.3892/mmr.2011.619. Epub 2011 Oct 11. Mol Med Rep. 2012. PMID: 21993478

4

Analysis of gene mutations in Chinese patients with maple syrup urine disease.

Yang N, Han L, Gu X, Ye J, Qiu W, Zhang H, Gong Z, Zhang Y. Yang N, et al. Among authors: gong z. Mol Genet Metab. 2012 Aug;106(4):412-8. doi: 10.1016/j.ymgme.2012.05.023. Epub 2012 Jun 6. Mol Genet Metab. 2012. PMID: 22727569

5

[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].

Yang N, Han LS, Ye J, Qiu WJ, Zhang HW, Gong ZW, Zhang YF, Wang Y, Gu XF. Yang N, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):648-52. doi: 10.3760/cma.j.issn.1003-9406.2012.06.005. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. PMID: 23225041 Chinese.

6

[Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].

Chang GY, Chen SK, Gu XF, Gong ZW, Zhang QG. Chang GY, et al. Zhonghua Er Ke Za Zhi. 2013 Dec;51(12):930-3. Zhonghua Er Ke Za Zhi. 2013. PMID: 24495765 Chinese.

7

Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

Han L, Wang F, Wang Y, Ye J, Qiu W, Zhang H, Gao X, Gong Z, Gu X. Han L, et al. Among authors: gong z. Eur J Med Genet. 2014 Oct;57(10):571-5. doi: 10.1016/j.ejmg.2014.08.001. Epub 2014 Aug 13. Eur J Med Genet. 2014. PMID: 25132046

8

[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].

Han F, Han L, Ye J, Qiu W, Zhang H, Gao X, Wang Y, Gong Z, Jin J, Gu X. Han F, et al. Among authors: gong z. Zhonghua Yi Xue Za Zhi. 2014 Sep 16;94(34):2684-6. Zhonghua Yi Xue Za Zhi. 2014. PMID: 25511598 Chinese.

9

[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].

Gong Z, Yu Y, Zhang Q, Gu X. Gong Z, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):204-7. doi: 10.3760/cma.j.issn.1003-9406.2015.02.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 25863087 Chinese.

10

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.

Han L, Wu S, Ye J, Qiu W, Zhang H, Gao X, Wang Y, Gong Z, Jin J, Gu X. Han L, et al. Among authors: gong z. Am J Med Genet A. 2015 Oct;167A(10):2300-5. doi: 10.1002/ajmg.a.37147. Epub 2015 May 17. Am J Med Genet A. 2015. PMID: 25982642

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