219 results on '"Schieffer, Kathleen M."'
Search Results
2. Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center.
3. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients
4. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon
5. Cellular congenital mesoblastic nephroma with focal anaplasia, report of a case.
6. Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.
7. Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.
8. Discovery of clinically relevant fusions in pediatric cancer
9. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas
10. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma
11. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma
12. Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing
13. A LINE-1 Mediated Deletion Resulting in Germline Retinoblastoma Predisposition
14. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas
15. Multifocal Versus Conventional Unifocal Diverticulitis: A Comparison of Clinical and Transcriptomic Characteristics
16. Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213
17. Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements
18. Development of a total colectomy and ileorectal anastomosis rat model to evaluate colonic metaplasia
19. Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue
20. Combined Medical and Surgical Approach Improves Healing of Septic Perianal Crohn's Disease
21. Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity.
22. Germline susceptibility from broad genomic profiling of pediatric brain cancers.
23. A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.
24. Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213.
25. Supplementary Figure from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study
26. Supplementary Data from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study
27. Data from Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study
28. CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience
29. Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease)
30. EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors
31. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review
32. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement
33. Detection of brain somatic variation in epilepsy‐associated developmental lesions
34. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication
35. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature
36. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study
37. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient
38. 26. Co-occurrence of rosette-forming glioneuronal tumors with Noonan Syndrome
39. Detection of brain somatic variation in epilepsy-associated developmental lesions
40. EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors.
41. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review.
42. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome
43. Additional file 1 of Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas
44. Additional file 1 of Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma
45. Additional file 1 of Discovery of clinically relevant fusions in pediatric cancer
46. Gastroblastoma with a novelEWSR1‐CTBP1fusion presenting in adolescence
47. Novel morphologic findings in PLAG1‐rearranged soft tissue tumors
48. Discovery of Clinically Relevant Fusions in Pediatric Cancer
49. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation
50. EPEN-17. FAVORABLE OUTCOME TO INTENSIVE CHEMOTHERAPY WITHOUT IRRADIATION IN INFANTILE METASTATIC EPENDYMOMA WITH A NOVEL MOLECULAR PROFILE: A CASE REPORT
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