Found: 30
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Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2349
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- Publication type:
- Article
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10021-x
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- Publication type:
- Article
Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213.
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- Pediatric Blood & Cancer, 2024, v. 71, n. 1, p. 1, doi. 10.1002/pbc.30739
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- Publication type:
- Article
Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease).
- Published in:
- Brain Pathology, 2023, v. 33, n. 5, p. 1, doi. 10.1111/bpa.13154
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- Publication type:
- Article
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.
- Published in:
- Cancers, 2023, v. 15, n. 17, p. 4394, doi. 10.3390/cancers15174394
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- Publication type:
- Article
CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience.
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- Cancers, 2023, v. 15, n. 6, p. 1649, doi. 10.3390/cancers15061649
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- Publication type:
- Article
EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors.
- Published in:
- Genes, Chromosomes & Cancer, 2023, v. 62, n. 1, p. 17, doi. 10.1002/gcc.23087
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- Publication type:
- Article
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review.
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- Genes, Chromosomes & Cancer, 2023, v. 62, n. 1, p. 39, doi. 10.1002/gcc.23081
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- Publication type:
- Article
Detection of brain somatic variation in epilepsy‐associated developmental lesions.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 8, p. 1981, doi. 10.1111/epi.17323
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- Publication type:
- Article
Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement.
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- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.932337
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- Publication type:
- Article
Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature.
- Published in:
- 2022
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- Publication type:
- Case Study
Expanding the clinical phenotype of FGFR1 internal tandem duplication.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006174
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- Publication type:
- Article
An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient.
- Published in:
- Neuro-Oncology Advances, 2022, v. 4, n. 1, p. 1, doi. 10.1093/noajnl/vdac121
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- Publication type:
- Article
Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01296-2
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- Publication type:
- Article
Discovery of clinically relevant fusions in pediatric cancer.
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- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08094-z
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- Publication type:
- Article
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006122
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- Publication type:
- Article
Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 9, p. 640, doi. 10.1002/gcc.22973
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- Publication type:
- Article
Novel morphologic findings in PLAG1‐rearranged soft tissue tumors.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 8, p. 577, doi. 10.1002/gcc.22953
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- Publication type:
- Article
Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01164-z
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- Publication type:
- Article
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a006023
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- Publication type:
- Article
Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005645
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- Publication type:
- Article
Elevated Colonic Mucin Expression Correlates with Extended Time to Surgery for Ulcerative Colitis Patients.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2019, v. 28, n. 4, p. 404, doi. 10.15403/jgld-250
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- Publication type:
- Article
Multifocal Versus Conventional Unifocal Diverticulitis: A Comparison of Clinical and Transcriptomic Characteristics.
- Published in:
- 2019
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- Publication type:
- journal article
A Differential Host Response to Viral Infection Defines a Subset of Earlier-Onset Diverticulitis Patients.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2018, v. 27, n. 3, p. 249, doi. 10.15403/jgld.2014.1121.273.sch
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- Publication type:
- Article
NOD2 Genetic Variants Predispose One of Two Familial Adenomatous Polyposis Siblings to Pouchitis Through Microbiome Dysbiosis.
- Published in:
- Journal of Crohn's & Colitis, 2017, v. 11, n. 11, p. 1393, doi. 10.1093/ecco-jcc/jjx083
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- Publication type:
- Article
Reduced total serum bilirubin levels are associated with ulcerative colitis.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0179267
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- Publication type:
- Article
The Relationship Between Iron Deficiency Anemia and Sensorineural Hearing Loss in the Pediatric and Adolescent Population.
- Published in:
- American Journal of Audiology, 2017, v. 26, n. 2, p. 155, doi. 10.1044/2017_AJA-16-0093
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- Publication type:
- Article
Association of Iron Deficiency Anemia With Hearing Loss in US Adults.
- Published in:
- 2017
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- Publication type:
- journal article
Bacterial and Fungal Microbiota Changes Distinguish C. difficile Infection from Other Forms of Diarrhea: Results of a Prospective Inpatient Study.
- Published in:
- Frontiers in Microbiology, 2016, p. 1, doi. 10.3389/fmicb.2016.00789
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- Publication type:
- Article
Incorporating Informatics for Integrating Biology and the Bedside (i2b2) into Predoctoral Trainee Curriculum to Evaluate Student- Generated Hypotheses.
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- CTS: Clinical & Translational Science, 2015, v. 8, n. 6, p. 729, doi. 10.1111/cts.12357
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- Publication type:
- Article