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Cold Spring Harbor molecular case studies

Showing results (411-420 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|January 13, 2023
Single-cell profiling of multiple myeloma reveals molecular response to FGFR3 inhibitor despite clinical progressionDanielle C Croucher, Anup Joseph Devasia, Dor D Abelman, et al.
Cold Spring Harbor Molecular Case Studies|December 28, 2022
Two mutations in the <i>SBDS</i> gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptomsMaría Noel Spangenberg, Sofia Grille, Camila Simoes, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Novel mutations in <i>SLC6A5</i> with benign course in hyperekplexiaHormos Salimi Dafsari, Amit Kawalia, Rosanne Sprute, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Enrichment of heterozygous germline <i>RECQL4</i> loss-of-function variants in pediatric osteosarcomaJamie L Maciaszek, Ninad Oak, Wenan Chen, et al.
Cold Spring Harbor Molecular Case Studies|May 18, 2017
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline <i>CHEK2</i>:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinomaMy Linh Thibodeau, Caralyn Reisle, Eric Zhao, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
When "<i>N</i> of 2" is not enough: integrating statistical and functional data in gene discoveryChristopher A Cassa, Sebastian Akle, Daniel M Jordan, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Whole-genome sequencing identifies homozygous <i>BRCA2</i> deletion guiding treatment in dedifferentiated prostate cancerKarin Purshouse, Anna Schuh, Benjamin P Fairfax, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Genetic and epigenetic profiling of a solitary Peutz-Jeghers colon polypHeinz Linhart, Felix Bormann, Barbara Hutter, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Novel de novo variant in <i>EBF3</i> is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published casesPatrick R Blackburn, Sarah S Barnett, Michael T Zimmermann, et al.
Cold Spring Harbor Molecular Case Studies|May 27, 2018
Co-occurrence of a maternally inherited <i>DNMT3A</i> duplication and a paternally inherited pathogenic variant in <i>EZH2</i> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a <i>DNMT3A</i> dosage effect?Katarzyna Polonis, Patrick R Blackburn, Raul A Urrutia, et al.
Pageof 48

Showing results (411-420 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|January 13, 2023
Single-cell profiling of multiple myeloma reveals molecular response to FGFR3 inhibitor despite clinical progressionDanielle C Croucher, Anup Joseph Devasia, Dor D Abelman, et al.
Cold Spring Harbor Molecular Case Studies|December 28, 2022
Two mutations in the <i>SBDS</i> gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptomsMaría Noel Spangenberg, Sofia Grille, Camila Simoes, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Novel mutations in <i>SLC6A5</i> with benign course in hyperekplexiaHormos Salimi Dafsari, Amit Kawalia, Rosanne Sprute, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Enrichment of heterozygous germline <i>RECQL4</i> loss-of-function variants in pediatric osteosarcomaJamie L Maciaszek, Ninad Oak, Wenan Chen, et al.
Cold Spring Harbor Molecular Case Studies|May 18, 2017
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline <i>CHEK2</i>:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinomaMy Linh Thibodeau, Caralyn Reisle, Eric Zhao, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
When "<i>N</i> of 2" is not enough: integrating statistical and functional data in gene discoveryChristopher A Cassa, Sebastian Akle, Daniel M Jordan, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Whole-genome sequencing identifies homozygous <i>BRCA2</i> deletion guiding treatment in dedifferentiated prostate cancerKarin Purshouse, Anna Schuh, Benjamin P Fairfax, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Genetic and epigenetic profiling of a solitary Peutz-Jeghers colon polypHeinz Linhart, Felix Bormann, Barbara Hutter, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Novel de novo variant in <i>EBF3</i> is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published casesPatrick R Blackburn, Sarah S Barnett, Michael T Zimmermann, et al.
Cold Spring Harbor Molecular Case Studies|May 27, 2018
Co-occurrence of a maternally inherited <i>DNMT3A</i> duplication and a paternally inherited pathogenic variant in <i>EZH2</i> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a <i>DNMT3A</i> dosage effect?Katarzyna Polonis, Patrick R Blackburn, Raul A Urrutia, et al.
Pageof 48