42 results on '"Rinelli, Martina"'
Search Results
2. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
3. A Novel CHEK2 Variant Identified by Next-Generation Sequencing in an Italian Family with Li-Fraumeni Syndrome: Case Report
4. Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.
5. Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept
6. #119 Prediction of germline brca 1/2 genes pathogenetic variants from healthy ovaries ultrasound images: radiogenomics as an innovative tool to prevent BRCA-related cancers
7. Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family
8. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
9. CUX1-related neurodevelopmental disorder:deep insights into phenotype-genotype spectrum and underlying pathology
10. Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family
11. CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology
12. Liquid Biopsy with Detection of NRASQ61K Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma
13. Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant
14. sj-docx-1-tam-10.1177_17588359221113693 – Supplemental material for Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience
15. sj-docx-2-tam-10.1177_17588359221113693 – Supplemental material for Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience
16. Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience
17. Pediatric gastrointestinal stromal tumor: Report of two novel patients harboring germline variants in SDHB and SDHC genes
18. Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript
19. Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review
20. Liquid Biopsy with Detection of NRAS Q61K Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma.
21. Expansion of the clinical and molecular spectrum of an XPD ‐related disorder linked to biallelic mutations inERCC2gene
22. Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review
23. Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management
24. Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis
25. DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk
26. Effectiveness of emicizumab in preventing life‐threatening bleeding complications in type 3 von Willebrand disease with inhibitors: A paediatric report
27. Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas
28. Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era
29. Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature
30. Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant
31. KBG syndrome: Common and uncommon clinical features based on 31 new patients
32. Targeting Epidermal Growth Factor Receptor (EGFR) in Pediatric Colorectal Cancer
33. GPC4 ; Keipert syndrome ; Nasodigitoacoustic syndrome ; glypicans
34. Pathogenic Variants in GPC4 Cause Keipert Syndrome
35. Novel clinical features associated with Clouston syndrome
36. Pathogenic Variants in GPC4 Cause Keipert Syndrome
37. Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism
38. Effectiveness of emicizumab in preventing life‐threatening bleeding complications in type 3 von Willebrand disease with inhibitors: A paediatric report.
39. Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism
40. Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant.
41. Clinical/Scientific Notes.
42. G6PD Potenza : A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian Population.
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