Funder
Israeli Science Foundation
The Milken Family Foundation & The Lowell Milken Family Foundation and the Ministry of Science, Technology & Space, Israel
Subject
Genetics,General Medicine
Reference19 articles.
1. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis;Andreoletti;J. Med. Genet.,2016
2. The RAGNYA fold: a novel fold with multiple topological variants found in functionally diverse nucleic acid, nucleotide and peptide-binding proteins;Balaji;Nucleic Acids Res.,2007
3. Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination;Isakov;J. Genet. Genomics,2015
4. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?;Jonsson;J. Med. Genet.,1998
5. Clinical exome sequencing for genetic identification of rare Mendelian disorders;Lee;JAMA,2014
Cited by
6 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献