Ravi Savarirayan
- Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double‐layer patella as a reliable sign
2003/05/23 by Outi Mäkitie, Ravi Savarirayan, Luisa Bonafé +4 · 62 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Neonatal Respiratory Health Research #Bone health and treatments #Dysplasia #Short stature #Medicine #Patella #Genetics #Anatomy #Biology #Pathology #Internal medicine
- TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA
2004/01/01 by Lucia Susani, Alessandra Pangrazio, Cristina Sobacchi +9 · 93 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Bone Metabolism and Diseases #NF-κB Signaling Pathways #Immune Response and Inflammation #Biology #RNA splicing #Genetics #Osteopetrosis #Small nuclear RNA #Mutation #Identification (biology) #Molecular biology #Gene #RNA #RNA-dependent RNA polymerase #Immunology