166 results on '"Boronat, Susana"'
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2. Epidemiología y características de la infección por SARS-COV-2 en el recién nacido y la gestante. Transferencia transplacentaria de inmunoglobulinas
3. Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients
4. Descamación esofágica en pediatría. Esofagitis disecante superficial
5. Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE.
6. Diagnostic accuracy of serum calprotectin measured by CLIA and EIA in juvenile idiopathic arthritis: a proof-of-concept study.
7. Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
8. Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q)
9. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study
10. Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature
11. Seizures in children undergoing stem cell transplantation
12. Seizures in children undergoing stem cell transplantation.
13. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.
14. Miotomía endoscópica por vía oral (POEM) como tratamiento para la acalasia pediátrica: estudio multicéntrico y primeros resultados.
15. Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature
16. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1variants and comparison to fibroblast cells
17. Arterial tortuosity syndrome: phenotypic and cardiovascular features in 4 newly identified patients
18. Gastrointestinal problems in 15q duplication syndrome
19. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations in 4 newly identified patients.
20. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
21. Epidemiology and characteristics of SARS-CoV-2 infection in the newborn and pregnant woman. Transplacemental transfer of immunoglobulins
22. Arachnoid cysts in tuberous sclerosis complex
23. The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study
24. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
25. Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study
26. Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex
27. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
28. Acute Acalculous Cholecystitis Due to a Primary Epstein Barr Virus Infection in a Pediatric Patient
29. EPIDEMIOLOGÍA Y CARACTERÍSTICAS DE LA INFECCIÓN POR SARS-COV-2 EN EL RECIÉN NACIDO Y LA GESTANTE. TRANSFERENCIA TRANSPLACENTARIA DE INMUNOGLOBULINAS
30. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
31. Esophageal desquamation in pediatrics. Esophagitis dissecans superficialis
32. DANDA Project: Dravet Syndrome-Associated Neuropsychiatric Disorders Assessment
33. Neurologic Complications in Pediatric Allogeneic Stem Cell Transplantation: Analysis of Risk Factors and Outcome
34. Bone Health in Children With Risk Factors for Low Bone Mass
35. Laparoscopic resection of a paediatric case of solid pseudopapillary tumour of the pancreas
36. Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex
37. Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex
38. Klüver–Bucy syndrome after unilateral frontotemporal resection in a child with tuberous sclerosis
39. Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
40. A case report of PHF6 mosaicism: Beyond the classic Börjeson‐Forssman‐Lehmann syndrome
41. Lymphedema in tuberous sclerosis complex
42. Neurologic Care of COVID-19 in Children
43. Long-term Efficacy of Perampanel in a Child with Dravet Syndrome
44. Stressor-related disorders in tuberous sclerosis
45. Laparoscopic resection of a paediatric case of solid pseudopapillary tumour of the pancreas
46. FGFR1 Mosaic Pathogenic Variant in Encephalocraniocutaneous Lipomatosis with Leptomeningeal Angiomatosis
47. Two-stage case-control association study of dopamine-related genes and migraine
48. Descamación esofágica en pediatría. Esofagitis disecante superficial
49. Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1variants and comparison to fibroblast cells
50. FGFR1 Mosaic Pathogenic Variant in Encephalocraniocutaneous Lipomatosis with Leptomeningeal Angiomatosis.
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