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Cold Spring Harbor molecular case studies

Showing results (441-450 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|July 29, 2018
In-frame de novo mutation in <i>BICD2</i> in two patients with muscular atrophy and arthrogryposisDaniel C Koboldt, Rama D Kastury, Megan A Waldrop, et al.
Cold Spring Harbor Molecular Case Studies|November 23, 2017
Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approachRen-Chin Wu, Ema Veras, Jeffrey Lin, et al.
Cold Spring Harbor Molecular Case Studies|November 3, 2017
Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencingHui-Li Wong, Kevin C Yang, Yaoqing Shen, et al.
Cold Spring Harbor Molecular Case Studies|November 3, 2017
<i>WISP3</i> mutation associated with pseudorheumatoid dysplasiaM Reza Sailani, James Chappell, Inlora Jingga, et al.
Cold Spring Harbor Molecular Case Studies|July 14, 2017
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathyDale L Bodian, Thierry Vilboux, Suchitra K Hourigan, et al.
Cold Spring Harbor Molecular Case Studies|February 24, 2018
A novel de novo <i>CAPN5</i> mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delayGabriel Velez, Alexander G Bassuk, Kellie A Schaefer, et al.
Cold Spring Harbor Molecular Case Studies|January 10, 2019
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the conditionDavid R Murdock, Yunyun Jiang, Michael Wangler, et al.
Cold Spring Harbor Molecular Case Studies|January 12, 2019
Late-onset pattern macular dystrophy mimicking <i>ABCA4</i> and <i>PRPH2</i> disease is caused by a homozygous frameshift mutation in <i>ROM1</i>Chu Jian Ma, Winston Lee, Nicholas Stong, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Two myeloid leukemia cases with rare <i>FLT3</i> fusionsHaijiao Zhang, Aleksandra Paliga, Evie Hobbs, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemiaDavid Claassen, Michelle Boals, Kevin M Bowling, et al.
Pageof 48

Showing results (441-450 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|July 29, 2018
In-frame de novo mutation in <i>BICD2</i> in two patients with muscular atrophy and arthrogryposisDaniel C Koboldt, Rama D Kastury, Megan A Waldrop, et al.
Cold Spring Harbor Molecular Case Studies|November 23, 2017
Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approachRen-Chin Wu, Ema Veras, Jeffrey Lin, et al.
Cold Spring Harbor Molecular Case Studies|November 3, 2017
Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencingHui-Li Wong, Kevin C Yang, Yaoqing Shen, et al.
Cold Spring Harbor Molecular Case Studies|November 3, 2017
<i>WISP3</i> mutation associated with pseudorheumatoid dysplasiaM Reza Sailani, James Chappell, Inlora Jingga, et al.
Cold Spring Harbor Molecular Case Studies|July 14, 2017
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathyDale L Bodian, Thierry Vilboux, Suchitra K Hourigan, et al.
Cold Spring Harbor Molecular Case Studies|February 24, 2018
A novel de novo <i>CAPN5</i> mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delayGabriel Velez, Alexander G Bassuk, Kellie A Schaefer, et al.
Cold Spring Harbor Molecular Case Studies|January 10, 2019
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the conditionDavid R Murdock, Yunyun Jiang, Michael Wangler, et al.
Cold Spring Harbor Molecular Case Studies|January 12, 2019
Late-onset pattern macular dystrophy mimicking <i>ABCA4</i> and <i>PRPH2</i> disease is caused by a homozygous frameshift mutation in <i>ROM1</i>Chu Jian Ma, Winston Lee, Nicholas Stong, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Two myeloid leukemia cases with rare <i>FLT3</i> fusionsHaijiao Zhang, Aleksandra Paliga, Evie Hobbs, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemiaDavid Claassen, Michelle Boals, Kevin M Bowling, et al.
Pageof 48