相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Breast Cancer Tumor Suppressors: A Special Emphasis on Novel Protein Nischarin
Mazvita Maziveyi et al.
CANCER RESEARCH (2015)
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations
Jieun Seo et al.
JOURNAL OF HUMAN GENETICS (2015)
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation
M. D. Bashyam et al.
CLINICAL GENETICS (2014)
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Carlos E. Prada et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)
A novel mutation in an atypical presentation of the rare infantile Farber disease
Fatma Al Jasmi
BRAIN & DEVELOPMENT (2012)
Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system
Aziza K. Chedrawi et al.
BRAIN & DEVELOPMENT (2012)
Farber lipogranulomatosis type 1-Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation
L. Cvitanovic-Sojat et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2011)
Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard et al.
GENOME RESEARCH (2010)
Uroplakin gene expression in normal human tissues and locally advanced bladder cancer
J Olsburgh et al.
JOURNAL OF PATHOLOGY (2003)
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease
T Muramatsu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2002)
Molecular analysis of acid ceramidase deficiency in patients with Farber disease
J Bar et al.
HUMAN MUTATION (2001)
分享论文
