19 results on '"N. Van Regemorter"'
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2. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
3. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
4. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
5. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
6. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
7. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
8. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
9. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
10. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
11. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
12. Delineation of two distinct 6p deletion syndromes.
13. Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.
14. A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.
15. Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
16. On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family.
17. Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.
18. Holt Oram syndrome mistaken for thalidomide embryopathy--embryological considerations.
19. Partial trisomy 3p in two siblings: clinical and pathological findings.
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