Yuan H - Search Results

1

A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors.

Yuan H, Li X, Wang Q, Yang W, Song J, Hu X, Shen Y. Yuan H, et al. Eur J Med Genet. 2018 Oct;61(10):607-611. doi: 10.1016/j.ejmg.2018.04.002. Epub 2018 Apr 11. Eur J Med Genet. 2018. PMID: 29654904

2

[Chromosomal microarray analysis of 2000 pediatric cases].

Yuan H, Zhu J, Deng X, Chen M, Li X, Li Q, Lyu F. Yuan H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):247-51. doi: 10.3760/cma.j.issn.1003-9406.2016.02.027. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27060327 Chinese.

3

Paternal Uniparental Disomy of Chromosome 14 with Hypospadias.

Yuan H, Xie Y, Li Q, Hu X, Li X, Sun X, Zhao W. Yuan H, et al. Cytogenet Genome Res. 2016;148(4):256-61. doi: 10.1159/000446783. Epub 2016 Jun 15. Cytogenet Genome Res. 2016. PMID: 27300571

4

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.

Yuan H, Huang L, Hu X, Li Q, Sun X, Xie Y, Kong S, Wang X. Yuan H, et al. Orphanet J Rare Dis. 2016 Jul 2;11(1):89. doi: 10.1186/s13023-016-0465-4. Orphanet J Rare Dis. 2016. PMID: 27370225 Free PMC article.

5

A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies.

Yuan H, Meng Z, Liu L, Deng X, Hu X, Liang L. Yuan H, et al. Mol Cytogenet. 2016 Aug 2;9:58. doi: 10.1186/s13039-016-0268-2. eCollection 2016. Mol Cytogenet. 2016. PMID: 27486481 Free PMC article.

6

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Liang L, Xie Y, Shen Y, Yin Q, Yuan H. Liang L, et al. Among authors: yuan h. Cytogenet Genome Res. 2016;150(2):112-117. doi: 10.1159/000454698. Epub 2016 Dec 29. Cytogenet Genome Res. 2016. PMID: 28030855

7

[Analysis of 10 patients with duplications of 15q11q13 region and autism features].

Wang W, Hu C, Bi X, Yuan H. Wang W, et al. Among authors: yuan h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):23-28. doi: 10.3760/cma.j.issn.1003-9406.2018.01.005. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29419854 Chinese.

8

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.

Yuan H, Wang Q, Liu Y, Yang W, He Y, Gusella JF, Song J, Shen Y. Yuan H, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):589-595. doi: 10.1002/ajmg.b.32673. Epub 2018 Aug 4. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30076746 Free PMC article.

9

Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.

Wang Q, Huang X, Liu Y, Peng Q, Zhang Y, Liu J, Yuan H. Wang Q, et al. Among authors: yuan h. Eur J Med Genet. 2020 Jan;63(1):103611. doi: 10.1016/j.ejmg.2019.01.001. Epub 2019 Jan 4. Eur J Med Genet. 2020. PMID: 30615951

10

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.

Chen F, Yuan H, Wu W, Chen S, Yang Q, Wang J, Zhang Q, Gui B, Fan X, Chen R, Shen Y. Chen F, et al. Among authors: yuan h. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):218-225. doi: 10.1002/ajmg.c.31698. Epub 2019 Mar 20. Am J Med Genet C Semin Med Genet. 2019. PMID: 30893510

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

11,144 results

Search Page

Filters