19 results on '"Pelet"'
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2. PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome
3. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
4. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]
5. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
6. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
7. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
8. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
9. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
10. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
11. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
12. A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease
13. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
14. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
15. A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease
16. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
17. Heterozygous Endothelin Receptor B (EDNRBMutations in Isolated Hirschsprung Disease.
18. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
19. A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.
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