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- 2-methoxyestradiol 1
- 2-oxoglutarate dehydrogenase 1
- 2-oxoglutarato deshidrogenasa 1
- 2. Cell Adhesion Molecules/genetics* 3. Child 4. Child, Preschool 5. Down Syndrome/complications 6. Down Syndrome/genetics* 7. Endocardial Cushion Defects/genetics* 8. Extracellular Matrix Proteins/genetics* 9. Female 10. GATA4 Transcription Factor/genetics* 11. Genetic Predisposition to Disease 12. Germ-Line Mutation* Defectos de los Tabiques Cardíacos - genetics 1
- 22q 11.2 1
- 22q11 .2DS 1
- 24 hs intraesophageal pH monitoring test. 1
- 26SrRNA 1
- 3 - Hidroxiesteroide deshidrogenasas - deficiencia 1
- 3 - Hydroxysteroid Dehydrogenases - Deficiency 1
- 3 dihidrorodamina y nitroazul de tetrazolio 1
- 3 NBT reduction 1
- 3-chloroacetol phosphate 1
- 3-Hydroxy-3-Methylglutaric Aciduria 1
- 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 1
- 3. Cell Adhesion/genetics 4. Child, Preschool 5. Consanguinity 6. DNA Mutational Analysis 7. Feasibility Studies 8. HEK293 Cells 9. Hematopoietic Stem Cell Transplantation* 10. Humans 11. Immunoglobulins, Intravenous/administration & dosage* 12. Immunoglobulins, Intravenous/adverse effects 13. Infant 14. Leukocyte-Adhesion Deficiency Syndrome/diagnosis* 15. Leukocyte-Adhesion Deficiency Syndrome/therapy 16. Leukocytes/physiology* 17. Male 18. Mutation, Missense/genetics 19. Pedigree 20. Phagocytosis/genetics 21. Treatment Outcome 22. Ulcer/diagnosis* 23. Ulcer/therapy 24. Wound Healing/drug effects 1
- 31P NMR spectroscopy 1
- 34.- Testosterona - sangre - ratones 1
- 4.- Líquido del Lavado Bronquioalveolar - citología 1
- 46, XY Disorders of Sex Development - pathology 1