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101 results on '"Giorgio V."'

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1. Trisomy 22 mosaicism from prenatal to postnatal findings: a case series and systematic review of the literature

2. Ligamentous laxity in children with achondroplasia: prevalence, joint involvement, and implications for early intervention strategies

4. Bone tissue homeostasis and risk of fractures in Costello syndrome: a four-year follow-up study

5. Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome

6. What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review

7. The 'FEEDS (FEeding Eating Deglutition Skills)' over Time Study in Cardiofaciocutaneous Syndrome

8. Metabolic profile of patients with Smith-Magenis syndrome: an observational study with literature review

9. From feeding challenges to oral-motor dyspraxia: a comprehensive description of 10 new cases with CTNNB1 syndrome.

10. How pain affect real life of children and adults with achondroplasia: A systematic review

11. Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations

12. How pain affect real life of children and adults with achondroplasia: a systematic review

13. Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population

14. Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome

15. The impact of blenderized tube feeding on gastrointestinal symptoms, a scoping review

16. Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome

17. Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module

18. Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia

19. Management of nutritional and gastrointestinal issues in RASopathies: a narrative review

20. Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet

21. Drooling outcome measures in paediatric disability: a systematic review

22. Body mass index in type 2 spinal muscular atrophy: a longitudinal study

23. Metabolic profiling of Costello syndrome: insights from a single-center cohort

24. Intrahepatic cholangiocarcinoma and thermal ablation: Long-term results of an Italian retrospective multicenter study

25. Impact of Surgical Approach on Patient-Reported Outcomes after Radical Prostatectomy: A Propensity Score-Weighted Analysis from a Multicenter, Prospective, Observational Study (The Pros-IT CNR Study)

26. FZD6 triggers Wnt–signalling driven by WNT10BIVS1 expression and highlights new targets in T-cell acute lymphoblastic leukemia

27. Treatment of Hydatid Liver Cyst With Double Percutaneous Aspiration and Ethanol Injection Under Ultrasound Guidance: 6.5-Year Median Follow-up Analysis

28. Musculo‐skeletal phenotype of Costello syndrome and cardio‐facio‐cutaneous syndrome: insights on the functional assessment status.

30. A transition clinic model for inflammatory bowel disease between two tertiary care centers: outcomes and predictive factors

31. Impact of Costello syndrome on growth patterns

32. The dark side of COVID-19: The need of integrated medicine for children with special care needs

33. Genetic susceptibility of increased intestinal permeability is associated with progressive liver disease and diabetes in patients with non-alcoholic fatty liver disease

34. Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

35. Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome

36. Erythema multiforme in a 14-year-old girl with Henoch-Schönlein purpura and pancolitis: a relationship with mesalazine?

37. Erythema multiforme bei einem 14-jährigen Mädchen mit Purpura Schönlein-Henoch und Pankolitis: Ein Zusammenhang mit Mesalazin?

38. Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia

39. Use OF NBI for the assessment of clinical signs of rhino-pharyngo-laryngeal reflux in pediatric age: Preliminary results

40. Hypoglycaemia in patients with type 1 SMA: An underdiagnosed problem?

41. Ultrasound-guided percutaneous irreversible electroporation of hepatic and abdominal tumors not eligible for surgery or thermal ablation: a western report on safety and efficacy

42. Safety of antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: prospective data from a multidisciplinary working group

43. Update on International Cooperative Groups Studies in Thoracic Malignancies: The Emergence of Immunotherapy.

44. Determinants of patient and health care services delays for tuberculosis diagnosis in Italy: A cross-sectional observational study

45. Update on International Cooperative Groups Studies in Thoracic Malignancies: The Emergence of Immunotherapy.

46. Determinants of patient and health care services delays for tuberculosis diagnosis in Italy: A cross-sectional observational study

47. Microwave ablation in intermediate hepatocellular carcinoma in cirrhosis: An italian multicenter prospective study

48. Pancreatic head mass and jaundice as revealing signs of autoimmune pancreatitis type 2 in a 15-year-old girl

49. Enzalutamide-resistant castration-resistant prostate cancer: challenges and solutions

50. Geometry and symmetry in non-equilibrium thermodynamic systems

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