308 results on '"De Marco, Patrizia"'
Search Results
2. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
3. Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study
4. Spinal involvement in pediatric familial cavernous malformation syndrome
5. Early molecular diagnosis of BRAF status drives the neurosurgical management in BRAF V600E-mutant pediatric low-grade gliomas: a case report
6. Real-World Efficacy of Biological Therapies in Severe Asthma: A Focus on Small Airways.
7. Characterization of the Monkeypox Virus [MPX]-Specific Immune Response in MPX-Cured Individuals Using Whole Blood to Monitor Memory Response.
8. Chagas Disease in the Non-Endemic Area of Rome, Italy: Ten Years of Experience and a Brief Overview.
9. Efficacy of a Multistrain Synbiotic Treatment in Acute and Post-Acute COVID-19 Patients: A Double-Blind, Placebo-Controlled Randomized Trial.
10. Exercise-Induced Asthma: Managing Respiratory Issues in Athletes
11. Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type
12. Neuroblastoma Patients’ Outcome and Chromosomal Instability
13. Chiari malformation type I: what information from the genetics?
14. Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
15. Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center
16. Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report.
17. Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity
18. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals
19. Multiple Genes with Potential Tumor Suppressive Activity Are Present on Chromosome 10q Loss in Neuroblastoma and Are Associated with Poor Prognosis
20. Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213
21. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
22. Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?
23. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration
24. Tuning electronic properties of carbon nanotubes by nitrogen grafting: Chemistry and chemical stability
25. Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues
26. Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study
27. Genetic Screening of Pediatric Cavernous Malformations
28. Effects of SARS-CoV-2 Infection on Pulmonary Function Tests and Exercise Tolerance
29. Genomic Analysis Made It Possible to Identify Gene-Driver Alterations Covering the Time Window between Diagnosis of Neuroblastoma 4S and the Progression to Stage 4
30. SURG-07. The impact of early targeted therapy on the neurosurgical approach to pediatric low-grade glioma
31. LGG-35. Dyslipidemia in children treated with BRAF inhibitors for brain tumor, a new side effect? A single center retrospective study
32. OTHR-22. Malignant mesothelioma (MM) as second cancer in childhood brain tumor survivors: the first child with neurofibromatosis type 2 and concurrent MM
33. Dyslipidemia in Children Treated with a BRAF Inhibitor for Low-Grade Gliomas: A New Side Effect?
34. A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre–Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc
35. L1CAM variants cause two distinct imaging phenotypes on fetal MRI
36. Loss-of-function de novo mutations play an important role in severe human neural tube defects
37. Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome
38. Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects
39. Biomarkers for possible early detection and progression of idiopathic pulmonary fibrosis
40. The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome
41. Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case–control study
42. Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway
43. RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome
44. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
45. Exosomes from Plasma of Neuroblastoma Patients Contain Doublestranded DNA Reflecting the Mutational Status of Parental Tumor Cells
46. Current perspectives on the genetic causes of neural tube defects
47. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk
48. Mutations in VANGL1 associated with neural-tube defects
49. Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type
50. Erratum to: Genetic Screening of Pediatric Cavernous Malformations
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