Inborn errors of cobalamin absorption and metabolism
- 作者David Watkins; David S. Rosenblatt
- 卷第157卷
- 期第1期
- 印刷ISSN1552-4868
- 电子ISSN1552-4876
- 文件大小342.37KB
- 发表时间2011
- DOI10.1002/ajmg.c.30288
- 页码33-44
Genetic evaluation of American minority pediatric cochlear implant recipientsTova C. Fischer; Joy Samanich; Bernice E. Morrow; Janie Chobot-Rodd; Alan Shanske; Sanjay R. Parikh · 2009
A unique presentation of Wiskott–Aldrich syndrome in relation to platelet sizePayal D. Patel; Joy M. Samanich; William B. Mitchell; Deepa Manwani · 2011
Agnathia–otocephaly complex: A case report and examination of the OTX2 and PRRX1 genesSean Herman; Maria Delio; Bernice Morrow; Joy Samanich · 2012
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtiaDennis C. Monks; Arthee Jahangir; Alan L. Shanske; Joy Samanich; Bernice E. Morrow; Melanie Babcock · 2010
The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndromeJoy M. Samanich, Terry L. Levin, Walter E. Berdon · 2012
Severe osteopathia striata with cranial sclerosis in a female case with whole <i>WTX</i> gene deletionHerman, Sean B.; Holman, Sarah K.; Robertson, Stephen P.; Davidson, Lynn; Taragin, Benjamin; Samanich, Joy · American Journal of Medical Genetics Part A · 2013
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descentJidong Shan; Janie Chobot-Rodd; Raquel Castellanos; Melanie Babcock; Alan Shanske; Sanjay R. Parikh; Bernice E. Morrow; Joy Samanich · 2010