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132 results on '"Great Ormond Street Hospital for Children [London] (GOSH)"'

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1. Ernica consensus conference on the management of patients with long-gap esophageal atresia:perioperative, surgical, and long-term management

2. Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

3. Refractory septic shock in children: a European Society of Paediatric and Neonatal Intensive Care definition

4. International comparisons of laboratory values from the 4CE collaborative to predict COVID-19 mortality

5. Erratum

6. Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis

7. Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial

8. Systematic review and meta‐analysis: the incidence and prevalence of paediatric coeliac disease across Europe

9. Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

10. Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome

11. An ESPGHAN Position Paper on the Use of Low-FODMAP Diet in Pediatric Gastroenterology

12. Computational modelling of the right ventricle in repaired tetralogy of Fallot: can it provide insight into patient treatment?

13. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

14. Skin manifestations of COVID‐19 in children: Part 2

15. GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL NERVOUS SYSTEM DEVELOPMENT

16. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

17. Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum

18. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review

19. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

20. Long-Term Follow-up Study after Lentiviral Hematopoietic Stem/Progenitor Cell Gene Therapy for Wiskott - Aldrich Syndrome

21. Drugs in Focus: Octreotide Use in Children With Gastrointestinal Disorders

22. Modélisation électromécanique du coeur et analyse d'images

23. Prevalence and Clinical Outcomes of Poor Immune Response Despite Virologically Suppressive Antiretroviral Therapy Among Children and Adolescents With Human Immunodeficiency Virus in Europe and Thailand: Cohort Study

24. Multiscale Modeling of Superior Cavopulmonary Circulation: Hemi-Fontan and Bidirectional Glenn Are Equivalent

25. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

26. An ESPGHAN Position Paper on the Use of Breath Testing in Paediatric Gastroenterology

27. Diagnosis, Management, and Prevention of Button Battery Ingestion in Childhood: A European Society for Paediatric Gastroenterology Hepatology and Nutrition Position Paper

28. International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

29. Vemurafenib for Refractory Multisystem Langerhans Cell Histiocytosis in Children: An International Observational Study

30. HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

31. Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study

32. Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial

33. Simoctocog Alfa (Nuwiq) in Previously Untreated Patients with Severe Haemophilia A: Final Results of the NuProtect Study

34. 7TH INTERIM ANALYSIS OF ANTIHEMOPHILIC FACTOR (RECOMBINANT) AND JOINT HEALTH IN PATIENTS WITH HEMOPHILIA A: AHEAD INTERNATIONAL

35. Making sense of missense variants in TTN-related congenital myopathies

36. Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

37. Gastrointestinal Perspective of Coronavirus Disease 2019 in Children-An Updated Review

38. Inhibitor incidence in an unselected cohort of previously untreated patients with severe haemophilia B: a PedNet study

39. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

40. Interferon signature in patients with STAT1 gain‐of‐function mutation is epigenetically determined

41. A Lumped Parameter Model to Study Atrioventricular Valve Regurgitation in Stage 1 and Changes Across Stage 2 Surgery in Single Ventricle Patients

42. Microbial Translocation Does Not Drive Immune Activation in Ugandan Children Infected With HIV

43. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

44. Treatment of MOG-IgG-associated disorder with rituximab

45. ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

46. Cardiac valve involvement in ADAR -related type I interferonopathy

47. Focal Dorsal Hippocampal Nav1.1 Knock Down Alters Place Cell Temporal Coordination and Spatial Behavior

48. The complication rate of intravascular ultrasound (IVUS) in a multicenter pediatric heart transplant population: A study of the international pediatric IVUS consortium

49. Atrial fibrillation, anticoagulation management and risk of stroke in the Cardiomyopathy/Myocarditis registry of the EURObservational Research Programme of the European Society of Cardiology

50. Long-term thermal sensitivity of Earth's tropical forests

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