32 results on '"Prada, Elisabetta"'
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2. Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report
3. Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
4. The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.
5. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
6. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
7. Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement
8. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
9. Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
10. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report
11. La sindrome Beckwith-Wiedemann
12. Lo spettro della sindrome Cornelia de Lange
13. Quando una mela al giorno… non toglie il medico di torno!
14. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
15. Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
16. Vaccine administration in children with chronic kidney disease
17. Impact of a mixed bacterial lysate (OM-85 BV) on the immunogenicity, safety and tolerability of inactivated influenza vaccine in children with recurrent respiratory tract infection
18. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
19. Autoimmune/inflammatory syndrome induced by adjuvants (ASIA): clues and pitfalls in the pediatric background
20. Additional file 1 of A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report
21. Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology
22. A Novel De Novo Ddx3x Missense Variant in a Female With Brachycephaly and Intellectual Disability: A Case Report
23. Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
24. Unexpected phenotype in a frameshift mutation of PTCH1
25. Impact of a mixed bacterial lysate (OM-85 BV) on the immunogenicity, safety and tolerability of inactivated influenza vaccine in children with recurrent respiratory tract infection
26. Immunization of children with secondary immunodeficiency
27. Impact of air pollution on respiratory diseases in children with recurrent wheezing or asthma
28. 991Characteristics of Human Rhinovirus Infection in Pediatric Age
29. Pneumococcal Bacterial Load Colonization as a Marker of Mixed Infection in Children With Alveolar Community-acquired Pneumonia and Respiratory Syncytial Virus or Rhinovirus Infection
30. Unexpected phenotype in a frameshift mutation of PTCH1.
31. Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
32. OP095 - Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology.
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