Literature DB >> 20880121

Two-hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes.

R A Kumar1.   

Abstract

Year:  2010        PMID: 20880121     DOI: 10.1111/j.1399-0004.2010.01530_1.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  4 in total

1.  Quantitative Measurement of PARD3 Copy Number Variations in Human Neural Tube Defects.

Authors:  Yonghui Gao; Jianhua Wang; Shaofang Shangguan; Yihua Bao; Xiaoli Lu; Jizhen Zou; Yaohua Dai; Junling Liu; Ting Zhang
Journal:  Cell Mol Neurobiol       Date:  2017-06-16       Impact factor: 5.046

2.  Role of the DLGAP2 gene encoding the SAP90/PSD-95-associated protein 2 in schizophrenia.

Authors:  Jun-Ming Li; Chao-Lin Lu; Min-Chih Cheng; Sy-Ueng Luu; Shih-Hsin Hsu; Tsung-Ming Hu; Hsin-Yao Tsai; Chia-Hsiang Chen
Journal:  PLoS One       Date:  2014-01-08       Impact factor: 3.240

3.  Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

Authors:  Malgorzata I Srebniak; Laura J C M van Zutven; Florence Petit; Sonia Bouquillon; Ilse P J van Heel; Maarten F C M Knapen; Jerome M J Cornette; Andreas Kremer; Diane Van Opstal; Karin E M Diderich
Journal:  Mol Cytogenet       Date:  2016-06-02       Impact factor: 2.009

4.  Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders.

Authors:  Wei-Hsien Chien; Susan Shur-Fen Gau; Hsiao-Mei Liao; Yen-Nan Chiu; Yu-Yu Wu; Yu-Shu Huang; Wen-Che Tsai; Ho-Min Tsai; Chia-Hsiang Chen
Journal:  Mol Autism       Date:  2013-08-01       Impact factor: 7.509

  4 in total

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