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Cold Spring Harbor molecular case studies

Showing results (131-140 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|January 10, 2023
A <i>TRIP11:: FLT3</i> gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literatureElise R Venable, Marie-France Gagnon, Beth A Pitel, et al.
Cold Spring Harbor Molecular Case Studies|May 3, 2020
Pathogenic variants in <i>KPTN</i> gene identified by clinical whole-genome sequencingIsabelle Thiffault, Andrea Atherton, Bryce A Heese, et al.
Cold Spring Harbor Molecular Case Studies|May 8, 2020
Hypogonadotropic hypogonadism due to variants in <i>RAB3GAP2</i>: expanding the phenotypic and genotypic spectrum of Martsolf syndromeWanxue Xu, Lacey Plummer, Richard Quinton, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Novel <i>PDGFRB</i> rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinibMohammed Hassan, Erin Butler, Raphael Wilson, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Data sharing for clinical utilityIsabel Bjork, Jennifer Peralez, David Haussler, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Pediatric cancer: case studies illustrate mechanisms to address significant challengesAndrew L Kung, Elaine R Mardis
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Exome sequencing reveals germline gain-of-function <i>EGFR</i> mutation in an adult with Lhermitte-Duclos diseaseSamantha Colby, Lamis Yehia, Farshad Niazi, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in <i>SPG11</i>Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>Gillian Rea, Tessa Homfray, Jan Till, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Exome sequencing identifies de novo pathogenic variants in <i>FBN1</i> and <i>TRPS1</i> in a patient with a complex connective tissue phenotypeDiane B Zastrow, Patricia A Zornio, Annika Dries, et al.
Pageof 48

Showing results (131-140 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|January 10, 2023
A <i>TRIP11:: FLT3</i> gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literatureElise R Venable, Marie-France Gagnon, Beth A Pitel, et al.
Cold Spring Harbor Molecular Case Studies|May 3, 2020
Pathogenic variants in <i>KPTN</i> gene identified by clinical whole-genome sequencingIsabelle Thiffault, Andrea Atherton, Bryce A Heese, et al.
Cold Spring Harbor Molecular Case Studies|May 8, 2020
Hypogonadotropic hypogonadism due to variants in <i>RAB3GAP2</i>: expanding the phenotypic and genotypic spectrum of Martsolf syndromeWanxue Xu, Lacey Plummer, Richard Quinton, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Novel <i>PDGFRB</i> rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinibMohammed Hassan, Erin Butler, Raphael Wilson, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Data sharing for clinical utilityIsabel Bjork, Jennifer Peralez, David Haussler, et al.
Cold Spring Harbor Molecular Case Studies|October 25, 2019
Pediatric cancer: case studies illustrate mechanisms to address significant challengesAndrew L Kung, Elaine R Mardis
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Exome sequencing reveals germline gain-of-function <i>EGFR</i> mutation in an adult with Lhermitte-Duclos diseaseSamantha Colby, Lamis Yehia, Farshad Niazi, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in <i>SPG11</i>Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>Gillian Rea, Tessa Homfray, Jan Till, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Exome sequencing identifies de novo pathogenic variants in <i>FBN1</i> and <i>TRPS1</i> in a patient with a complex connective tissue phenotypeDiane B Zastrow, Patricia A Zornio, Annika Dries, et al.
Pageof 48