On the shoulders of giants
- 作者James W. Patterson
- 卷第32卷
- 期第1期
- 印刷ISSN0303-6987
- 电子ISSN1600-0560
- 文件大小30.45KB
- 发表时间2005
- DOI10.1111/j.0303-6987.2005.00318.x
- 页码1-1
De Barsy syndrome: a review of the phenotypeKivuva, Emma C.; Parker, Michael J.; Cohen, Marta C.; Wagner, Bart E.; Sobey, Glenda · Clinical Dysmorphology · 2008
De Barsy syndrome: Report of a case, literature review, and elastin gene expression studies of the skinP. S. Karnes; A. T. Shamban; D. R. Olsen; M. J. Fazio; M.D. R. E. Falk · 1992
Severe Phenotype of De Barsy Syndrome in Two Siblings with Novel Mutations in the ALDH18A1 GeneR, Smigiel; K, Kusmierska; A, Pollak; K, Szmyd; J, Kosinska; T, Polawski; G, Kostrzewa; MM, Sasiadek; R, Ploski · Journal of Clinical & Medical Genomics · 2017
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndromeDar-Shong Lin; Jui-Hsing Chang; Hsuan-Liang Liu; Chin-Hung Wei; Chun-Yan Yeung; Che-Sheng Ho; Chyong-Hsin Shu; Ming-Fu Chiang; Chih-Kuang Chuang; Yu-Wen Huang; Tsu-Yen Wu; Yuan-Ren Jian; Zon-Darr Huang; Shuan-Pei Lin · 2011