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Cold Spring Harbor Molecular Case Studies
|
August 17, 2023
Reclassification of the <i>HPGD</i> p.Ala13Glu variant causing primary hypertrophic osteoarthropathy
Juan J Alban, Alejandra Arango-Ramirez, Jorge A Olave-Rodriguez, et al.
Cold Spring Harbor Molecular Case Studies
|
October 17, 2023
Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient
Katherine Reid, Olga Camacho-Vanegas, Deep Pandya, et al.
Cold Spring Harbor Molecular Case Studies
|
September 20, 2023
Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL)
Patricia M Kim, Reza Nejati, Pin Lu, et al.
Cold Spring Harbor Molecular Case Studies
|
July 11, 2023
Evaluation of hypereosinophilia in a case of <i>FLT3</i>-mutant acute myeloid leukemia treated with gilteritinib
Leslie N Martinez-Gutierrez, Blake C Burgher, Manuel J Glynias, et al.
Cold Spring Harbor Molecular Case Studies
|
January 5, 2017
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide
Baris Akinci, Shireesha Sankella, Christopher Gilpin, et al.
Cold Spring Harbor Molecular Case Studies
|
November 21, 2018
A case of <i>KMT2A-SEPT9</i> fusion-associated acute megakaryoblastic leukemia
Christopher J Forlenza, Yanming Zhang, JinJuan Yao, et al.
Cold Spring Harbor Molecular Case Studies
|
November 21, 2018
Early-onset infant epileptic encephalopathy associated with a de novo <i>PPP3CA</i> gene mutation
Yanyan Qian, Bingbing Wu, Yulan Lu, et al.
Cold Spring Harbor Molecular Case Studies
|
April 3, 2019
Pharmacogenomic considerations for antiplatelet agents: the era of precision medicine in stroke prevention and neurointerventional practice
Phillip A Bonney, Benjamin Yim, Waleed Brinjikji, et al.
Cold Spring Harbor Molecular Case Studies
|
March 20, 2019
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in <i>MANBA</i>
Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, et al.
Cold Spring Harbor Molecular Case Studies
|
March 20, 2019
From uncertainty to pathogenicity: clinical and functional interrogation of a rare <i>TP53</i> in-frame deletion
Emily A Quinn, Jamie L Maciaszek, Emilia M Pinto, et al.
Page
of 48
Search research articles
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Showing results (101-110 of 479) with videos related to
Sort By:
Page
of 48
Cold Spring Harbor Molecular Case Studies
|
August 17, 2023
Reclassification of the <i>HPGD</i> p.Ala13Glu variant causing primary hypertrophic osteoarthropathy
Juan J Alban, Alejandra Arango-Ramirez, Jorge A Olave-Rodriguez, et al.
Cold Spring Harbor Molecular Case Studies
|
October 17, 2023
Deep molecular tracking over the 12-yr development of endometrial cancer from hyperplasia in a single patient
Katherine Reid, Olga Camacho-Vanegas, Deep Pandya, et al.
Cold Spring Harbor Molecular Case Studies
|
September 20, 2023
Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL)
Patricia M Kim, Reza Nejati, Pin Lu, et al.
Cold Spring Harbor Molecular Case Studies
|
July 11, 2023
Evaluation of hypereosinophilia in a case of <i>FLT3</i>-mutant acute myeloid leukemia treated with gilteritinib
Leslie N Martinez-Gutierrez, Blake C Burgher, Manuel J Glynias, et al.
Cold Spring Harbor Molecular Case Studies
|
January 5, 2017
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide
Baris Akinci, Shireesha Sankella, Christopher Gilpin, et al.
Cold Spring Harbor Molecular Case Studies
|
November 21, 2018
A case of <i>KMT2A-SEPT9</i> fusion-associated acute megakaryoblastic leukemia
Christopher J Forlenza, Yanming Zhang, JinJuan Yao, et al.
Cold Spring Harbor Molecular Case Studies
|
November 21, 2018
Early-onset infant epileptic encephalopathy associated with a de novo <i>PPP3CA</i> gene mutation
Yanyan Qian, Bingbing Wu, Yulan Lu, et al.
Cold Spring Harbor Molecular Case Studies
|
April 3, 2019
Pharmacogenomic considerations for antiplatelet agents: the era of precision medicine in stroke prevention and neurointerventional practice
Phillip A Bonney, Benjamin Yim, Waleed Brinjikji, et al.
Cold Spring Harbor Molecular Case Studies
|
March 20, 2019
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in <i>MANBA</i>
Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, et al.
Cold Spring Harbor Molecular Case Studies
|
March 20, 2019
From uncertainty to pathogenicity: clinical and functional interrogation of a rare <i>TP53</i> in-frame deletion
Emily A Quinn, Jamie L Maciaszek, Emilia M Pinto, et al.
Page
of 48