13 results on '"Digilio, M. C."'
Search Results
2. Familial transposition of the great arteries caused by multiple mutations in laterality genes
3. Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.
4. Radial aplasia and chromosome 22q11 deletion.
5. Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.
6. Chromosome 22q11 microdeletion and isolated conotruncal heart defects
7. Heterotaxia syndromes and 22q11 deletion.
8. Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.
9. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
10. Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.
11. Familial atrioventricular septal defect: possible genetic mechanism.
12. Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.
13. Familial postaxial acrofacial dysostosis syndrome.
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