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Cold Spring Harbor molecular case studies

Showing results (381-390 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|August 31, 2023
Novel pathogenic <i>PDX1</i> gene variant in a Korean family with maturity-onset diabetes of the youngHyunji Kim, Hwa Young Kim, Jae Hyun Kim, et al.
Cold Spring Harbor Molecular Case Studies|August 16, 2023
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failureDana R Tower, Ronald W Day, Tighe Marrone, et al.
Cold Spring Harbor Molecular Case Studies|July 11, 2023
<i>FKBP14</i> kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case reportAmy Wiegand, Rama Kastury, Arpita Neogi, et al.
Cold Spring Harbor Molecular Case Studies|February 3, 2019
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2Simone Lipinski, Britt-Sabina Petersen, Matthias Barann, et al.
Cold Spring Harbor Molecular Case Studies|February 3, 2019
Refractory and metastatic infantile fibrosarcoma harboring <i>LMNA-NTRK1</i> fusion shows complete and durable response to crizotinibJonathan Bender, Bailey Anderson, David A Bloom, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Undifferentiated small round cell sarcoma in a young male: a case reportCora A Ricker, Noah E Berlow, Kenneth A Crawford, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in <i>RPE65</i>Ruben Jauregui, Ahra Cho, Jin Kyun Oh, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Erratum: Data sharing for clinical utilityIsabel Bjork, Jennifer Peralez, David Haussler, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
<i>DICER1</i>-associated metastatic abdominopelvic primitive neuroectodermal tumor with an <i>EWSR1</i> rearrangement in a 16-yr-old femaleAlessia Pancaldi, Lei Peng, Daniel S Rhee, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Infantile fibrosarcoma-like tumor driven by novel <i>RBPMS-MET</i> fusion consolidated with cabozantinibAjay Gupta, Jennifer A Belsky, Kathleen M Schieffer, et al.
Pageof 48

Showing results (381-390 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|August 31, 2023
Novel pathogenic <i>PDX1</i> gene variant in a Korean family with maturity-onset diabetes of the youngHyunji Kim, Hwa Young Kim, Jae Hyun Kim, et al.
Cold Spring Harbor Molecular Case Studies|August 16, 2023
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failureDana R Tower, Ronald W Day, Tighe Marrone, et al.
Cold Spring Harbor Molecular Case Studies|July 11, 2023
<i>FKBP14</i> kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case reportAmy Wiegand, Rama Kastury, Arpita Neogi, et al.
Cold Spring Harbor Molecular Case Studies|February 3, 2019
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2Simone Lipinski, Britt-Sabina Petersen, Matthias Barann, et al.
Cold Spring Harbor Molecular Case Studies|February 3, 2019
Refractory and metastatic infantile fibrosarcoma harboring <i>LMNA-NTRK1</i> fusion shows complete and durable response to crizotinibJonathan Bender, Bailey Anderson, David A Bloom, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Undifferentiated small round cell sarcoma in a young male: a case reportCora A Ricker, Noah E Berlow, Kenneth A Crawford, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in <i>RPE65</i>Ruben Jauregui, Ahra Cho, Jin Kyun Oh, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Erratum: Data sharing for clinical utilityIsabel Bjork, Jennifer Peralez, David Haussler, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
<i>DICER1</i>-associated metastatic abdominopelvic primitive neuroectodermal tumor with an <i>EWSR1</i> rearrangement in a 16-yr-old femaleAlessia Pancaldi, Lei Peng, Daniel S Rhee, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Infantile fibrosarcoma-like tumor driven by novel <i>RBPMS-MET</i> fusion consolidated with cabozantinibAjay Gupta, Jennifer A Belsky, Kathleen M Schieffer, et al.
Pageof 48