Ma D - Search Results

1

Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.

Ji X, Liang D, Sun R, Liu C, Ma D, Wang Y, Hu P, Xu Z. Ji X, et al. Among authors: ma d. BMC Med Genet. 2015 Jul 30;16:57. doi: 10.1186/s12881-015-0206-x. BMC Med Genet. 2015. PMID: 26224010 Free PMC article.

2

[Detection of cryptic copy number variations in a fetus with congenital heart disease by array-based comparative genomic hybridization].

HU P, WANG Y, JI XQ, LIN Y, Li L, ZHOU XY, CHEN J, MA DY, CAO L, Xu Z. HU P, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):133-6. doi: 10.3760/cma.j.issn.1003-9406.2011.02.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 21462121 Chinese.

3

22q11.2 microduplication in a family with recurrent fetal congenital heart disease.

Hu P, Ji X, Yang C, Zhang J, Lin Y, Cheng J, Ma D, Cao L, Yi L, Xu Z. Hu P, et al. Among authors: ma d. Eur J Med Genet. 2011 Jul-Aug;54(4):e433-6. doi: 10.1016/j.ejmg.2011.03.009. Epub 2011 Apr 5. Eur J Med Genet. 2011. PMID: 21473936

4

[Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies in prenatal diagnosis].

Ma DY, Hu P, Zhang JJ, Yi L, Ji XQ, Yang C, Cheng J, Li L, Lin Y, Xu ZF. Ma DY, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):543-7. doi: 10.3760/cma.j.issn.1003-9406.2011.05.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 21983731 Chinese.

5

[ASS1 mutation leading to citrullinemia I in a Chinese Han family].

Hu P, Zhou XY, Ma DY, Sun Y, Zhang XJ, Han SP, Yu ZB, Jiang T, Chen YL, Xu Z. Hu P, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):630-3. doi: 10.3760/cma.j.issn.1003-9406.2011.06.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 22161093 Chinese.

6

[Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome].

Wang Y, Ma DY, Yang YQ, Zhou J, Zhou XY, Ji XQ, Chen J, Cao L, Hu P, Xu ZF. Wang Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):439-42. doi: 10.3760/cma.j.issn.1003-9406.2012.04.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. PMID: 22875502 Chinese.

7

[Prenatal diagnosis of two fetuses with de novo small supernumerary markers by single nucleotide polymorphism array based comparative genomic hybridization].

Ji XQ, Li L, Lin Y, Ma DY, Liu A, Zhang JJ, Cheng J, Zhou J, Hu P, Xu ZF. Ji XQ, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Oct;29(5):510-4. doi: 10.3760/cma.j.issn.1003-9406.2012.05.002. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. PMID: 23042383 Chinese.

8

[Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].

Ma DY, Sun Y, Chen Y, Yang B, Cheng J, Huang ML, Zhang J, Zhang JJ, Hu P, Lin Y, Jiang T, Xu ZF. Ma DY, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):49-54. doi: 10.3760/cma.j.issn.1003-9406.2013.01.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23450479 Chinese.

9

[Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].

Meng LL, Jiang T, Qin L, Ma DY, Chen YL, Han SP, Yu ZB, Guo XR, Hu P, Xu ZF. Meng LL, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):195-8. doi: 10.3760/cma.j.issn.1003-9406.2013.04.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23568734 Chinese.

10

1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.

Hu P, Wang Y, Meng LL, Qin L, Ma DY, Yi L, Xu ZF. Hu P, et al. Mol Cytogenet. 2013 Aug 6;6(1):30. doi: 10.1186/1755-8166-6-30. Mol Cytogenet. 2013. PMID: 23915434 Free PMC article.

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