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Cold Spring Harbor molecular case studies

Showing results (91-100 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|August 7, 2021
A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndromeLisa A Lansdon, Dong Chen, Eric T Rush, et al.
Cold Spring Harbor Molecular Case Studies|November 17, 2022
Germline mosaicism in a family with <i>MBD5</i> haploinsufficiencyMehak Bhatia, Gianpiero L Cavalleri, Máire White, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Histone H3K36I mutation in a metastatic histiocytic tumor of the skull and response to sarcoma chemotherapyMatija Snuderl, Igor Dolgalev, Adriana Heguy, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)Deborah I Ritter, Shruti Rao, Shashikant Kulkarni, et al.
Cold Spring Harbor Molecular Case Studies|April 18, 2020
A novel variant in <i>MAP3K7</i> associated with an expanded cardiospondylocarpofacial syndrome phenotypeFatima AbuBakr, Lauren Jeffries, Weizhen Ji, et al.
Cold Spring Harbor Molecular Case Studies|September 2, 2021
Intra- and intertumoral heterogeneity of liver metastases in a patient with uveal melanoma revealed by single-cell RNA sequencingWeitao Lin, Aaron B Beasley, Nima Mesbah Ardakani, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Clinical IRAK4 deficiency caused by homozygosity for the novel <i>IRAK4</i> (c.1049delG, p.Gly350Glufs*15) variantAlicia Jia, Elliot James, Henry Y Lu, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Precise breakpoint detection in a patient with 9p- syndromeJeffrey Ng, Eleanor Sams, Dustin Baldridge, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2023
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsyJagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, et al.
Pageof 48

Showing results (91-100 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|August 7, 2021
A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndromeLisa A Lansdon, Dong Chen, Eric T Rush, et al.
Cold Spring Harbor Molecular Case Studies|November 17, 2022
Germline mosaicism in a family with <i>MBD5</i> haploinsufficiencyMehak Bhatia, Gianpiero L Cavalleri, Máire White, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Histone H3K36I mutation in a metastatic histiocytic tumor of the skull and response to sarcoma chemotherapyMatija Snuderl, Igor Dolgalev, Adriana Heguy, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)Deborah I Ritter, Shruti Rao, Shashikant Kulkarni, et al.
Cold Spring Harbor Molecular Case Studies|April 18, 2020
A novel variant in <i>MAP3K7</i> associated with an expanded cardiospondylocarpofacial syndrome phenotypeFatima AbuBakr, Lauren Jeffries, Weizhen Ji, et al.
Cold Spring Harbor Molecular Case Studies|September 2, 2021
Intra- and intertumoral heterogeneity of liver metastases in a patient with uveal melanoma revealed by single-cell RNA sequencingWeitao Lin, Aaron B Beasley, Nima Mesbah Ardakani, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Clinical IRAK4 deficiency caused by homozygosity for the novel <i>IRAK4</i> (c.1049delG, p.Gly350Glufs*15) variantAlicia Jia, Elliot James, Henry Y Lu, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Precise breakpoint detection in a patient with 9p- syndromeJeffrey Ng, Eleanor Sams, Dustin Baldridge, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2023
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsyJagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, et al.
Pageof 48