333 results on '"Cocchi, Guido"'
Search Results
2. Newborns with Congenital Malformations
3. A reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes
4. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
5. One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage.
6. Pareto front approximation through a multi-objective augmented Lagrangian method
7. The transcriptome profile of human trisomy 21 blood cells
8. One-carbon pathway and cognitive skills in children with Down syndrome
9. A concave optimization-based approach for sparse multiobjective programming
10. Scheduling the Italian National Volleyball Tournament
11. Plasma metabolome and cognitive skills in Down syndrome
12. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
13. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
14. Urinary Tract Abnormalities (UTA) and Associated Malformations: Data of the Emilia-Romagna Registry
15. Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome
16. Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype association
17. One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage
18. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
19. Adverse pregnancy outcomes in women exposed to gabapentin and pregabalin: data from a population-based study
20. Survey of Italian Pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors
21. One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosage
22. International Retrospective Cohort Study Of Neural Tube Defects In Relation To Folic Acid Recommendations: Are The Recommendations Working?
23. Surveillance of adverse fetal effects of medications (SAFE-Med): Findings from the International Clearinghouse of Birth Defects Surveillance and Research
24. Eating and Lifestyle Habits in Youth With Down Syndrome Attending a Care Program: An Exploratory Lesson for Future Improvements
25. Additional file 2 of The transcriptome profile of human trisomy 21 blood cells
26. Additional file 6 of The transcriptome profile of human trisomy 21 blood cells
27. Additional file 4 of The transcriptome profile of human trisomy 21 blood cells
28. Additional file 3 of The transcriptome profile of human trisomy 21 blood cells
29. CHARGE-like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
30. Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?
31. Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology
32. Silver–Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization
33. Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome
34. Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
35. Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature
36. Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
37. Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research
38. Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
39. Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
40. How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research
41. A concave optimization-based approach for sparse multiobjective programming
42. Emilia-Romagna Study on Pregnancy and Exposure to Antiepileptic drugs (ESPEA): a population-based study on prescription patterns, pregnancy outcomes and fetal health
43. Preventing neural tube defects in Europe: A missed opportunity
44. How to become an under 11 rescuer: a practical method to teach first aid to primary schoolchildren
45. Long Interspersed Nuclear Element-1 (LINE1)-Mediated Deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld Syndrome With Borderline Intelligence
46. Convergent descent methods for smooth multiobjective optimization
47. Immunological patterns in young children with Down syndrome: is there a temporal trend?
48. Cerebrospinal fluid shunt infections in infants
49. Familial occurrence of multiple pterygium syndrome: Expression in a heterozygote of the recessive form or variability of the dominant form?
50. STARCH THICKENING OF HUMAN MILK IS INEFFECTIVE IN REDUCING THE GASTROESOPHAGEAL REFLUX IN PRETERM INFANTS: A CROSSOVER STUDY USING INTRALUMINAL IMPEDANCE
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