Zhang VW - Search Results

1

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Ye Z, Lin S, Zhao X, Bennett MF, Brown NJ, Wallis M, Gao X, Sun L, Wu J, Vedururu R, Witkowski T, Gardiner F, Stutterd C, Duan J, Mullen SA, McGillivray G, Bodek S, Valente G, Reagan M, Yao Y, Li L, Chen L, Boys A, Adikari TN, Cao D, Hu Z, Beshay V, Zhang VW, Berkovic SF, Scheffer IE, Liao J, Hildebrand MS. Ye Z, et al. Among authors: zhang vw. Hum Mutat. 2022 Dec;43(12):1956-1969. doi: 10.1002/humu.24454. Epub 2022 Sep 6. Hum Mutat. 2022. PMID: 36030538

2

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Tang S, et al. Among authors: zhang vw. Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23463613

3

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

You C, Zeng W, Deng L, Lei Z, Gao X, Zhang VW, Wang Y. You C, et al. Among authors: zhang vw. Front Neurol. 2020 May 5;11:319. doi: 10.3389/fneur.2020.00319. eCollection 2020. Front Neurol. 2020. PMID: 32431660 Free PMC article.

4

Clinical and laboratory interpretation of mitochondrial mRNA variants.

Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: zhang s, zhang vw. Hum Mutat. 2020 Oct;41(10):1783-1796. doi: 10.1002/humu.24082. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652755

5

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B, Fernandes P, Zhang VW, Ward PA, Miloslavskaya I, Rhead W, Rosenbaum R, Gin R, Roa B, Fang P. Sadikovic B, et al. Among authors: zhang vw. Hum Mutat. 2014 Dec;35(12):1407-17. doi: 10.1002/humu.22687. Hum Mutat. 2014. PMID: 25212744

6

Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies.

Chen M, Chen J, Wang C, Chen F, Xie Y, Li Y, Li N, Wang J, Zhang VW, Chen D. Chen M, et al. Among authors: zhang vw. Eur J Obstet Gynecol Reprod Biol. 2020 Aug;251:119-124. doi: 10.1016/j.ejogrb.2020.04.033. Epub 2020 May 20. Eur J Obstet Gynecol Reprod Biol. 2020. PMID: 32502767

7

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.

Han J, Yang YD, He Y, Liu WJ, Zhen L, Pan M, Yang X, Zhang VW, Liao C, Li DZ. Han J, et al. Among authors: zhang vw. Prenat Diagn. 2020 Apr;40(5):577-584. doi: 10.1002/pd.5653. Epub 2020 Feb 10. Prenat Diagn. 2020. PMID: 31994750

8

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

Zhao J, Lyu G, Ding C, Wang X, Li J, Zhang W, Yang X, Zhang VW. Zhao J, et al. Among authors: zhang w, zhang vw. Mol Genet Genomic Med. 2022 Mar;10(3):e1825. doi: 10.1002/mgg3.1825. Epub 2022 Feb 14. Mol Genet Genomic Med. 2022. PMID: 35156329 Free PMC article.

9

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.

Zheng W, Yan Z, He R, Huang Y, Lin A, Huang W, Su Y, Li S, Zhang VW, Xie H. Zheng W, et al. Among authors: zhang vw. BMC Neurol. 2018 Oct 20;18(1):174. doi: 10.1186/s12883-018-1177-2. BMC Neurol. 2018. PMID: 30342480 Free PMC article.

10

B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7.

Mai K, Chen X, Wang C, Wu S, Yang L, Huang Z, Zhang G, Zhang VW, Wang J, Chen D. Mai K, et al. Among authors: zhang g, zhang vw. Immunobiology. 2020 Sep;225(5):152005. doi: 10.1016/j.imbio.2020.152005. Epub 2020 Aug 12. Immunobiology. 2020. PMID: 32962823

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

109 results

Search Page