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Cold Spring Harbor molecular case studies

Showing results (231-240 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|February 15, 2018
Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patientChristopher A Miller, Sonika Dahiya, Tiandao Li, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Rapid whole-genome sequencing identifies a novel <i>AIRE</i> variant associated with autoimmune polyendocrine syndrome type 1Erica Sanford, Kelly Watkins, Shareef Nahas, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2017
Detection and genomic characterization of a mammary-like adenocarcinomaJasleen K Grewal, Peter Eirew, Martin Jones, et al.
Cold Spring Harbor Molecular Case Studies|April 1, 2018
Whole-exome sequencing identifies germline mutation in <i>TP53</i> and <i>ATRX</i> in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytomaKristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcomaKenneth A Crawford, Noah E Berlow, Jennifer Tsay, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Reticular dysgenesis caused by an intronic pathogenic variant in <i>AK2</i>Shoji Ichikawa, Susan Prockop, Charlotte Cunningham-Rundles, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporterZoltán N Oltvai, Eric A Smith, Katie Wiens, et al.
Cold Spring Harbor Molecular Case Studies|August 6, 2022
Exon skipping in genes encoding lineage-defining myogenic transcription factors in rhabdomyosarcomaErin Butler, Lin Xu, Dinesh Rakheja, et al.
Cold Spring Harbor Molecular Case Studies|October 27, 2019
Identification of a novel <i>MYOC</i> variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressureJune Criscione, Weizhen Ji, Lauren Jeffries, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Comparative RNA-seq analysis aids in diagnosis of a rare pediatric tumorLauren M Sanders, Arun Rangaswami, Isabel Bjork, et al.
Pageof 48

Showing results (231-240 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|February 15, 2018
Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patientChristopher A Miller, Sonika Dahiya, Tiandao Li, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Rapid whole-genome sequencing identifies a novel <i>AIRE</i> variant associated with autoimmune polyendocrine syndrome type 1Erica Sanford, Kelly Watkins, Shareef Nahas, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2017
Detection and genomic characterization of a mammary-like adenocarcinomaJasleen K Grewal, Peter Eirew, Martin Jones, et al.
Cold Spring Harbor Molecular Case Studies|April 1, 2018
Whole-exome sequencing identifies germline mutation in <i>TP53</i> and <i>ATRX</i> in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytomaKristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcomaKenneth A Crawford, Noah E Berlow, Jennifer Tsay, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Reticular dysgenesis caused by an intronic pathogenic variant in <i>AK2</i>Shoji Ichikawa, Susan Prockop, Charlotte Cunningham-Rundles, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporterZoltán N Oltvai, Eric A Smith, Katie Wiens, et al.
Cold Spring Harbor Molecular Case Studies|August 6, 2022
Exon skipping in genes encoding lineage-defining myogenic transcription factors in rhabdomyosarcomaErin Butler, Lin Xu, Dinesh Rakheja, et al.
Cold Spring Harbor Molecular Case Studies|October 27, 2019
Identification of a novel <i>MYOC</i> variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressureJune Criscione, Weizhen Ji, Lauren Jeffries, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Comparative RNA-seq analysis aids in diagnosis of a rare pediatric tumorLauren M Sanders, Arun Rangaswami, Isabel Bjork, et al.
Pageof 48