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Cold Spring Harbor molecular case studies

Showing results (301-310 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|November 11, 2020
Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic <i>FANCA</i> variantFrancis P Lach, Sonia Singh, Kimberly A Rickman, et al.
Cold Spring Harbor Molecular Case Studies|November 18, 2020
Treatment response and tumor evolution: lessons from an extended series of multianalyte liquid biopsies in a metastatic breast cancer patientLisa Welter, Liya Xu, Dillon McKinley, et al.
Cold Spring Harbor Molecular Case Studies|June 22, 2022
A de novo start-loss in <i>EFTUD2</i> associated with mandibulofacial dysostosis with microcephaly: case reportMuhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, et al.
Cold Spring Harbor Molecular Case Studies|December 28, 2022
Rapid genome sequencing identifies novel variants in complement factor IKatherine M Rodriguez, Jordan Vaught, Michelle Dilley, et al.
Cold Spring Harbor Molecular Case Studies|June 2, 2021
Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosisPanieh Terraf, Lynette M Sholl, Matthew S Davids, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2020
BRAF V600E-mutated metastatic pediatric Wilms tumor with complete response to targeted RAF/MEK inhibitionPatience Obasaju, Shubin Shahab, Emily Dunn, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumorsNobuyuki Takahashi, Vinodh N Rajapakse, Lorinc Pongor, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Deletion of <i>ERF</i> and <i>CIC</i> causes abnormal skull morphology and global developmental delayRam Singh, Ana S A Cohen, Cathryn Poulton, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Incidental identification of inv(16)(p13.1q22)/<i>CBFB</i>-<i>MYH11</i> variant transcript in a patient with therapy-related acute myeloid leukemia by routine leukemia translocation panel screen: implications for diagnosis and therapyAndrés E Quesada, Rajyalakshmi Luthra, Elias Jabbour, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiencyMallory J Owen, Jerica Lenberg, Annette Feigenbaum, et al.
Pageof 48

Showing results (301-310 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|November 11, 2020
Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic <i>FANCA</i> variantFrancis P Lach, Sonia Singh, Kimberly A Rickman, et al.
Cold Spring Harbor Molecular Case Studies|November 18, 2020
Treatment response and tumor evolution: lessons from an extended series of multianalyte liquid biopsies in a metastatic breast cancer patientLisa Welter, Liya Xu, Dillon McKinley, et al.
Cold Spring Harbor Molecular Case Studies|June 22, 2022
A de novo start-loss in <i>EFTUD2</i> associated with mandibulofacial dysostosis with microcephaly: case reportMuhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, et al.
Cold Spring Harbor Molecular Case Studies|December 28, 2022
Rapid genome sequencing identifies novel variants in complement factor IKatherine M Rodriguez, Jordan Vaught, Michelle Dilley, et al.
Cold Spring Harbor Molecular Case Studies|June 2, 2021
Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosisPanieh Terraf, Lynette M Sholl, Matthew S Davids, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2020
BRAF V600E-mutated metastatic pediatric Wilms tumor with complete response to targeted RAF/MEK inhibitionPatience Obasaju, Shubin Shahab, Emily Dunn, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumorsNobuyuki Takahashi, Vinodh N Rajapakse, Lorinc Pongor, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Deletion of <i>ERF</i> and <i>CIC</i> causes abnormal skull morphology and global developmental delayRam Singh, Ana S A Cohen, Cathryn Poulton, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Incidental identification of inv(16)(p13.1q22)/<i>CBFB</i>-<i>MYH11</i> variant transcript in a patient with therapy-related acute myeloid leukemia by routine leukemia translocation panel screen: implications for diagnosis and therapyAndrés E Quesada, Rajyalakshmi Luthra, Elias Jabbour, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiencyMallory J Owen, Jerica Lenberg, Annette Feigenbaum, et al.
Pageof 48