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383 results on '"Cordelli, Duccio Maria"'

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1. COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction

2. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

4. Identification of the DNA methylation signature of Mowat-Wilson syndrome

5. Epilepsy after acute central nervous system complications of pediatric hematopoietic cell transplantation: A retrospective, multicenter study

6. Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experience

7. Down Syndrome: how to communicate the diagnosis

9. Corrigendum: The new Italian registry of infantile thrombosis (RITI): a reflection on its journey, challenges and pitfalls

11. Ultrastructural and Immunohistochemical Diagnosis of a Neonatal Herpes Simplex Virus Infection Presenting as Fulminant Hepatitis: A Case Report

12. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

13. Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence

14. The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls

17. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.

20. Olfactory bulb anomalies in KBG syndrome mouse model and patients

21. Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus

22. Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

23. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

25. Posterior Reversible Encephalopathy Syndrome in infants and young children

26. Identification of the DNA methylation signature of Mowat-Wilson syndrome

27. A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus

28. Expanding the Clinical Spectrum ofUBTF-Related Neurodevelopmental Disorder

29. Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

32. Correction to: Ultrastructural and Immunohistochemical Diagnosis of a Neonatal Herpes Simplex Virus Infection Presenting as Fulminant Hepatitis: A Case Report

33. Correction to: Ultrastructural and Immunohistochemical Diagnosis of a Neonatal Herpes Simplex Virus Infection Presenting as Fulminant Hepatitis: A Case Report

35. NFIA haploinsufficiency: case series and literature review

36. Anti-Inflammatory and Immunomodulatory Effect of High-Dose Immunoglobulins in Children: From Approved Indications to Off-Label Use

37. Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders

40. Children under 6 years with acute headache in Pediatric Emergency Departments. A 2-year retrospective exploratory multicenter Italian study

42. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

43. Mowat-Wilson syndrome: growth charts

44. The involvement of the adrenergic system in feeding and eating disorders. A systematic review.

46. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

47. Cannabidiol in the acute phase of Febrile Infection‐Related Epilepsy Syndrome ( FIRES )

49. COQ7defect causes prenatal onset of mitochondrial CoQ10deficiency with cardiomyopathy and gastrointestinal obstruction

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