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Cold Spring Harbor molecular case studies

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Cold Spring Harbor Molecular Case Studies|October 16, 2021
<i>MED13L</i>-related intellectual disability due to paternal germinal mosaicismBeáta Bessenyei, István Balogh, Attila Mokánszki, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> c.934-2A > G is likely benign based on RNA and clinical dataFelicia Hernandez, Blair R Conner, Marcy E Richardson, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modificationsDaniel Gamu, William T Gibson
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Functional genomic analysis identifies drug targetable pathways in invasive and metastatic cutaneous squamous cell carcinomaAshley N Anderson, Danielle McClanahan, James Jacobs, et al.
Cold Spring Harbor Molecular Case Studies|August 26, 2020
Diffuse midline glioma with novel, potentially targetable, <i>FGFR2-VPS35</i> fusionGeorge Zanazzi, Benjamin L Liechty, Danielle Pendrick, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Cold Spring Harbor Molecular Case Studies|April 9, 2021
Assessing acquired resistance to IDH1 inhibitor therapy by full-exon <i>IDH1</i> sequencing and structural modelingZoltán N Oltvai, Susan E Harley, David Koes, et al.
Cold Spring Harbor Molecular Case Studies|January 10, 2024
PD-L1<sup>+</sup> diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired <i>PMS2</i> mutationAndrew W Allbee, James Gerson, Guang Yang, et al.
Cold Spring Harbor Molecular Case Studies|January 10, 2024
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia veraDingani Nkosi, Andrew W Allbee, Paul G Rothberg, et al.
Pageof 48

Showing results (471-480 of 479) with videos related to

Sort By:
Pageof 48
You have reached the last page of results.This site can display upto 479 results.
Cold Spring Harbor Molecular Case Studies|October 16, 2021
<i>MED13L</i>-related intellectual disability due to paternal germinal mosaicismBeáta Bessenyei, István Balogh, Attila Mokánszki, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> c.934-2A > G is likely benign based on RNA and clinical dataFelicia Hernandez, Blair R Conner, Marcy E Richardson, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modificationsDaniel Gamu, William T Gibson
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Functional genomic analysis identifies drug targetable pathways in invasive and metastatic cutaneous squamous cell carcinomaAshley N Anderson, Danielle McClanahan, James Jacobs, et al.
Cold Spring Harbor Molecular Case Studies|August 26, 2020
Diffuse midline glioma with novel, potentially targetable, <i>FGFR2-VPS35</i> fusionGeorge Zanazzi, Benjamin L Liechty, Danielle Pendrick, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Cold Spring Harbor Molecular Case Studies|April 9, 2021
Assessing acquired resistance to IDH1 inhibitor therapy by full-exon <i>IDH1</i> sequencing and structural modelingZoltán N Oltvai, Susan E Harley, David Koes, et al.
Cold Spring Harbor Molecular Case Studies|January 10, 2024
PD-L1<sup>+</sup> diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired <i>PMS2</i> mutationAndrew W Allbee, James Gerson, Guang Yang, et al.
Cold Spring Harbor Molecular Case Studies|January 10, 2024
Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia veraDingani Nkosi, Andrew W Allbee, Paul G Rothberg, et al.
Pageof 48