Search
Search Constraints
You searched for: Author/Creator Zuffardi, OLimit your search
- Zuffardi, O [remove] 19
- 616.042 19
- Medical genetics -- Periodicals 19
- 22q13 deletion syndrome -- FISH -- recurrent deletion -- SHANK3 -- subtelomeric deletion 1
- ABD, actin-binding domain -- BP, bullous pemphigoid -- CC, coiled-coil -- DMEM, Dulbecco's modified Eagle medium -- EA, oesophageal atresia -- EBV, Epstein-Barr virus -- FBS, fetal bovine serum -- FISH, fluorescent in situ hybridisation -- FSHD, facioscapulohumeral muscular dystrophy -- HAT, hypoxantine-aminopterin-thymidine -- IF, intermediate filaments -- IFBD, IF-binding domain -- LCL, lymphoblastoid cell line -- ODED, oculo-digito-oesophageal-duodenal -- PA-JEB, junctional epidermolysis bullosa with pyloric atresia -- PBL, peripheral blood lymphocytes -- RPMI medium, Roswell Park Memorial Institute medium 1
- AE, age equivalent -- PEP-R, Psycho-Educational Profile-Revised -- PSD, post-synaptic density -- VABS, Vineland Adaptative Behaviour Scale 1
- BAC, bacterial artificial chromosome -- CGH, comparative genomic hybridisation -- FISH, fluorescent in situ hybridisation -- LCR, low copy repeat -- NAHR, non-allelic homologous recombination -- UCSC, University of California Santa Cruz 1
- BAC, bacterial artificial chromosome -- FISH, fluorescence in situ hybridisation -- PAC, P1 artificial chromosome -- PCR, polymerase reaction -- VEP, visual evoked potential -- VUR, vesicoureteric reflux 1
- BPAG1 -- dystonin -- tracheo-oesophageal atresia -- translocation breakpoint 1
- FISH -- PAX2 gene -- chromosome imbalance -- subtelomeric cryptic rearrangement 1
- inversion polymorphism -- dicentric chromosomes -- terminal deletions -- non-contiguous deletions 1