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Cold Spring Harbor molecular case studies

Showing results (341-350 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|December 5, 2023
Clinical and functional analysis of the germline <i>TP53</i> p.K164E acetylation site variantEmilia Modolo Pinto, Enilze M S F Ribeiro, Jinling Wang, et al.
Cold Spring Harbor Molecular Case Studies|January 10, 2024
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literatureDaniah Albokhari, Ohood Alharbi, Alyssa Blesson, et al.
Cold Spring Harbor Molecular Case Studies|June 1, 2023
Clinical case report: mosaic <i>ANK3</i> pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delayXiaolan Fang, Timothy Fee, Jessica Davis, et al.
Cold Spring Harbor Molecular Case Studies|September 14, 2023
Novel pathogenic <i>UQCRC2</i> variants in a female with normal neurodevelopmentLea Abou Haidar, Robert C Harris, Panayotis Pachnis, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2018
9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexusCharuta Furey, Prince Antwi, Daniel Duran, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Comprehensive molecular characterization of a rare case of Philadelphia chromosome-positive acute myeloid leukemiaMara W Rosenberg, Samantha L Savage, Christopher A Eide, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological conditionSlavé Petrovski, Vandana Shashi, Steven Petrou, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A case of me: clinical cancer sequencing and the future of precision medicineLukas D Wartman
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Capturing phenotypes for precision medicinePeter N Robinson, Christopher J Mungall, Melissa Haendel
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcomaSarah Tannenbaum-Dvir, Julia L Glade Bender, Alanna J Church, et al.
Pageof 48

Showing results (341-350 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|December 5, 2023
Clinical and functional analysis of the germline <i>TP53</i> p.K164E acetylation site variantEmilia Modolo Pinto, Enilze M S F Ribeiro, Jinling Wang, et al.
Cold Spring Harbor Molecular Case Studies|January 10, 2024
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literatureDaniah Albokhari, Ohood Alharbi, Alyssa Blesson, et al.
Cold Spring Harbor Molecular Case Studies|June 1, 2023
Clinical case report: mosaic <i>ANK3</i> pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delayXiaolan Fang, Timothy Fee, Jessica Davis, et al.
Cold Spring Harbor Molecular Case Studies|September 14, 2023
Novel pathogenic <i>UQCRC2</i> variants in a female with normal neurodevelopmentLea Abou Haidar, Robert C Harris, Panayotis Pachnis, et al.
Cold Spring Harbor Molecular Case Studies|June 14, 2018
9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexusCharuta Furey, Prince Antwi, Daniel Duran, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Comprehensive molecular characterization of a rare case of Philadelphia chromosome-positive acute myeloid leukemiaMara W Rosenberg, Samantha L Savage, Christopher A Eide, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological conditionSlavé Petrovski, Vandana Shashi, Steven Petrou, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A case of me: clinical cancer sequencing and the future of precision medicineLukas D Wartman
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Capturing phenotypes for precision medicinePeter N Robinson, Christopher J Mungall, Melissa Haendel
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcomaSarah Tannenbaum-Dvir, Julia L Glade Bender, Alanna J Church, et al.
Pageof 48