Wang H - Search Results

1

A syndactyly type IV locus maps to 7q36.

Sato D, Liang D, Wu L, Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura KI, Xia J, Niikawa N. Sato D, et al. Among authors: wang h. J Hum Genet. 2007;52(6):561-564. doi: 10.1007/s10038-007-0150-5. Epub 2007 May 3. J Hum Genet. 2007. PMID: 17476456

2

[Rapid prenatal diagnosis of chromosome aneuploidies in 60 uncultured amniotic fluid samples by fluorescence in situ hybridization].

Wang H, Li H, Wang H, Wang H, Xia Y, Wen J, Long Z, Dai H, Liang D, Xia J, Wu L. Wang H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Oct;25(5):538-41. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008. PMID: 18841567 Chinese.

3

A ZRS duplication causes syndactyly type IV with tibial hypoplasia.

Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q, Long Z, Zhou Z, Yoshiura K, Wang H, Sato D, Nishimura G, Dai H, Zhang X, Xia J. Wu L, et al. Among authors: wang h. Am J Med Genet A. 2009 Feb 15;149A(4):816-8. doi: 10.1002/ajmg.a.32740. Am J Med Genet A. 2009. PMID: 19291772 No abstract available.

4

A patient with apparently reciprocal translocation and cryptic 10p deletion.

Wu L, Liao X, Wang H, Zhou Z, Lv W, Liang D. Wu L, et al. Among authors: wang h. Am J Med Genet A. 2011 Jul;155A(7):1753-5. doi: 10.1002/ajmg.a.33734. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626668 No abstract available.

5

Molecular investigation in Chinese patients with primary carnitine deficiency.

Zhang Y, Li H, Liu J, Yan H, Liu Q, Wei X, Xi H, Jia Z, Wu L, Wang H. Zhang Y, et al. Among authors: wang h. Mol Genet Genomic Med. 2019 Sep;7(9):e901. doi: 10.1002/mgg3.901. Epub 2019 Jul 30. Mol Genet Genomic Med. 2019. PMID: 31364285 Free PMC article. Clinical Trial.

6

A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.

Pi S, Mao X, Long H, Wang H. Pi S, et al. Among authors: wang h. Clin Genet. 2022 Oct;102(4):355-356. doi: 10.1111/cge.14186. Epub 2022 Jul 20. Clin Genet. 2022. PMID: 35856264

7

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D. Malhotra A, et al. Among authors: wang h. J Med Genet. 2021 Oct;58(10):712-716. doi: 10.1136/jmedgenet-2020-107137. Epub 2020 Aug 20. J Med Genet. 2021. PMID: 32820033 Free PMC article.

8

Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.

Tian Q, Shu L, Shu C, Xi H, Ma N, Mao X, Wang H. Tian Q, et al. Among authors: wang h. Eur J Hum Genet. 2023 Dec;31(12):1455-1457. doi: 10.1038/s41431-022-01125-7. Epub 2022 May 31. Eur J Hum Genet. 2023. PMID: 35637269 Free PMC article.

9

De novo variants in KCNJ3 are associated with early-onset epilepsy.

Li J, Mei S, Mao X, Wan L, Wang H, Xiao B, Song Y, Gu W, Liu Y, Long L. Li J, et al. Among authors: wang h. J Med Genet. 2024 Mar 21;61(4):319-324. doi: 10.1136/jmg-2023-109201. J Med Genet. 2024. PMID: 37963718

10

[Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations].

Zhang Y, Xu F, Tan Y, Hu J, Wang H. Zhang Y, et al. Among authors: wang h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):6-10. doi: 10.3760/cma.j.issn.1003-9406.2015.01.002. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 25636090 Chinese.

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