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You searched for: Author/Creator Fryssira, H- Fryssira, H [remove] 6
- Medical genetics -- Periodicals 6
- 616.042 4
- 616.0420 2
- ADO, autosomal dominant osteopetrosis -- ARO, autosomal recessive osteopetrosis -- BALP, bone alkaline phosphatase -- CA II, carbonic anhydrase II -- EIPA, 5-(N-ethyl-N-iso-propyl)-amiloride -- IRO, intermediate autosomal recessive osteopetrosis -- M-CSF, macrophage colony stimulating factor -- Ob.S/BS, osteoblast surface/bone surface -- Oc.S/BS, osteoclast surface/bone surface -- OSCA, osteocalcin -- PTH, parathyroid hormone -- RANKL, receptor activator of NF-κB ligand -- TRAcP, tartrate resistant acid phosphatase -- V-H+ATPase, vacuolar H+ATPase 1
- ATP6i/TCIRG1 gene -- ClCN7 gene -- osteoblast -- osteoclast -- osteopetrosis 1
- FISH, fluorescence in situ hybridisation -- LCR, low copy repeat -- PSM, paralogous sequence mismatch -- PSQ, paralogous sequence quantification -- QPCR, quantitative real time polymerase chain reaction -- SNP, single nucleotide polymorphism -- WBS, Williams-Beuren syndrome 1
- MED, multiple epiphyseal dysplasia -- SEDC, spondyloepiphyseal dysplasia congenita 1
- Williams-Beuren syndrome -- aneuploidy -- genomics -- real time PCR -- pyrosequencing 1
- arginine to cysteine mutation -- COL2A1 -- spondyloarthropathy -- spondyloepiphyseal dysplasia congenital -- Stickler syndrome 1