Found: 5
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Phenotypic Variability in Majeed Syndrome.
- Published in:
- 2016
- By:
- Publication type:
- case study
Exome Sequencing Reveals <i>RAG1</i> Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease.
- Published in:
- Journal of Clinical Immunology, 2013, v. 33, n. 8, p. 1289, doi. 10.1007/s10875-013-9953-7
- By:
- Publication type:
- Article
Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0169687
- By:
- Publication type:
- Article
Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy- Walker Malformation and Occipital Cephaloceles.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1075, doi. 10.1002/humu.22351
- By:
- Publication type:
- Article