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Cold Spring Harbor molecular case studies

Showing results (51-60 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|May 9, 2022
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathyMaeson S Latsko, Daniel C Koboldt, Samuel J Franklin, et al.
Cold Spring Harbor Molecular Case Studies|July 2, 2021
Exceptional response to the ALK and ROS1 inhibitor lorlatinib and subsequent mechanism of resistance in relapsed <i>ALK</i> F1174L-mutated neuroblastomaTingting Liu, Matthew D Merguerian, Steven P Rowe, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variantTonya Moss, Melanie May, Heather Flanagan-Steet, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2020
The diagnostic challenges and clinical course of a myeloid/lymphoid neoplasm with eosinophilia and <i>ZBTB20-JAK2</i> gene fusion presenting as B-lymphoblastic leukemiaWinston Y Lee, Ruthann B Pfau, Sarah M Choi, et al.
Cold Spring Harbor Molecular Case Studies|September 25, 2020
Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiencyTammarah Sklarz, Stephanie N Hurwitz, Natasha L Stanley, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injuryIkeoluwa A Osei-Owusu, Alexis L Norris, Anya T Joynt, et al.
Cold Spring Harbor Molecular Case Studies|January 15, 2021
Identification and characterization of novel <i>ACD</i> variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere lengthGabrielle Henslee, Christopher L Williams, Pengfei Liu, et al.
Cold Spring Harbor Molecular Case Studies|November 25, 2021
Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patientsClaire Mallard, Michael J Johnston, Anna Bobyn, et al.
Cold Spring Harbor Molecular Case Studies|November 25, 2021
Clinicopathologic and molecular analysis of a <i>BCOR-CCNB3</i> undifferentiated sarcoma of the kidney reveals significant epigenetic alterationsTamara J Hagoel, Eduardo Cortes Gomez, Ajay Gupta, et al.
Cold Spring Harbor Molecular Case Studies|February 27, 2021
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with <i>BRAF</i> p.T599dup mutationKatherine E Miller, Kathleen M Schieffer, Olivia Grischow, et al.
Pageof 48

Showing results (51-60 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|May 9, 2022
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathyMaeson S Latsko, Daniel C Koboldt, Samuel J Franklin, et al.
Cold Spring Harbor Molecular Case Studies|July 2, 2021
Exceptional response to the ALK and ROS1 inhibitor lorlatinib and subsequent mechanism of resistance in relapsed <i>ALK</i> F1174L-mutated neuroblastomaTingting Liu, Matthew D Merguerian, Steven P Rowe, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variantTonya Moss, Melanie May, Heather Flanagan-Steet, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2020
The diagnostic challenges and clinical course of a myeloid/lymphoid neoplasm with eosinophilia and <i>ZBTB20-JAK2</i> gene fusion presenting as B-lymphoblastic leukemiaWinston Y Lee, Ruthann B Pfau, Sarah M Choi, et al.
Cold Spring Harbor Molecular Case Studies|September 25, 2020
Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiencyTammarah Sklarz, Stephanie N Hurwitz, Natasha L Stanley, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injuryIkeoluwa A Osei-Owusu, Alexis L Norris, Anya T Joynt, et al.
Cold Spring Harbor Molecular Case Studies|January 15, 2021
Identification and characterization of novel <i>ACD</i> variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere lengthGabrielle Henslee, Christopher L Williams, Pengfei Liu, et al.
Cold Spring Harbor Molecular Case Studies|November 25, 2021
Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patientsClaire Mallard, Michael J Johnston, Anna Bobyn, et al.
Cold Spring Harbor Molecular Case Studies|November 25, 2021
Clinicopathologic and molecular analysis of a <i>BCOR-CCNB3</i> undifferentiated sarcoma of the kidney reveals significant epigenetic alterationsTamara J Hagoel, Eduardo Cortes Gomez, Ajay Gupta, et al.
Cold Spring Harbor Molecular Case Studies|February 27, 2021
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with <i>BRAF</i> p.T599dup mutationKatherine E Miller, Kathleen M Schieffer, Olivia Grischow, et al.
Pageof 48