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Kathleen M Schieffer

Showing results (21-30 of 49) with videos related to

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Cancer Genetics|November 6, 2025
Current state of diagnostic genetic testing in pediatric sarcoma: Survey and review by the Cancer Genomics Consortium Sarcoma Working GroupKathleen M Schieffer, Renu Bajaj, Selene C Koo, et al.
Neuro-Oncology Advances|January 12, 2024
A LINE-1 mediated deletion resulting in germline retinoblastoma predispositionErica L Macke, Anthony R Miller, Eileen Stonerock, et al.
Case Reports in Dermatological Medicine|February 14, 2022
Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the LiteratureJordan N Halsey, Esteban Fernandez Faith, Suzanna J Logan, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2021
Maternal mosaicism for a missense variant in the <i>SMS</i> gene that causes Snyder-Robinson syndromeMohammad Marhabaie, Scott E Hickey, Katherine Miller, et al.
Cancers|September 9, 2023
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural RearrangementsKathleen M Schieffer, Amanda Moccia, Brianna A Bucknor, et al.
Diagnostic Pathology|January 22, 2026
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelinesJennifer Vazzano Goldstone, Suzanna J Logan, Benjamin J Wilkins, et al.
Frontiers in Oncology|December 17, 2024
Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care centerAnn M Kebede, Elizabeth A R Garfinkle, Mariam T Mathew, et al.
Neuro-Oncology Advances|July 22, 2024
Germline susceptibility from broad genomic profiling of pediatric brain cancersElaine R Mardis, Samara L Potter, Kathleen M Schieffer, et al.
BMC Genomics|January 29, 2024
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexitySaranga Wijeratne, Maria E Hernandez Gonzalez, Kelli Roach, et al.
Scientific Reports|August 18, 2017
The Microbial Ecosystem Distinguishes Chronically Diseased Tissue from Adjacent Tissue in the Sigmoid Colon of Chronic, Recurrent Diverticulitis PatientsKathleen M Schieffer, Kate Sabey, Justin R Wright, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Cancer Genetics|November 6, 2025
Current state of diagnostic genetic testing in pediatric sarcoma: Survey and review by the Cancer Genomics Consortium Sarcoma Working GroupKathleen M Schieffer, Renu Bajaj, Selene C Koo, et al.
Neuro-Oncology Advances|January 12, 2024
A LINE-1 mediated deletion resulting in germline retinoblastoma predispositionErica L Macke, Anthony R Miller, Eileen Stonerock, et al.
Case Reports in Dermatological Medicine|February 14, 2022
Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the LiteratureJordan N Halsey, Esteban Fernandez Faith, Suzanna J Logan, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2021
Maternal mosaicism for a missense variant in the <i>SMS</i> gene that causes Snyder-Robinson syndromeMohammad Marhabaie, Scott E Hickey, Katherine Miller, et al.
Cancers|September 9, 2023
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural RearrangementsKathleen M Schieffer, Amanda Moccia, Brianna A Bucknor, et al.
Diagnostic Pathology|January 22, 2026
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelinesJennifer Vazzano Goldstone, Suzanna J Logan, Benjamin J Wilkins, et al.
Frontiers in Oncology|December 17, 2024
Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care centerAnn M Kebede, Elizabeth A R Garfinkle, Mariam T Mathew, et al.
Neuro-Oncology Advances|July 22, 2024
Germline susceptibility from broad genomic profiling of pediatric brain cancersElaine R Mardis, Samara L Potter, Kathleen M Schieffer, et al.
BMC Genomics|January 29, 2024
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexitySaranga Wijeratne, Maria E Hernandez Gonzalez, Kelli Roach, et al.
Scientific Reports|August 18, 2017
The Microbial Ecosystem Distinguishes Chronically Diseased Tissue from Adjacent Tissue in the Sigmoid Colon of Chronic, Recurrent Diverticulitis PatientsKathleen M Schieffer, Kate Sabey, Justin R Wright, et al.
Pageof 5