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Acta Neuropathologica
|
September 15, 2016
Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation
Joanna J Phillips, Henry Gong, Katharine Chen, et al.
Clinical Neuropathology
|
July 13, 2017
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history
Andrew K Chan, Seunggu J Han, Winward Choy, et al.
Oncotarget
|
October 15, 2016
GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity
Olle R Lindberg, Andrew McKinney, Jane R Engler, et al.
Biorxiv : the Preprint Server for Biology
|
February 8, 2024
Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy
Kun Leng, Cathryn R Cadwell, W Patrick Devine, et al.
European Journal of Human Genetics : EJHG
|
April 15, 2016
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Donatella Peca, Renata Boldrini, Jan Johannson, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2015
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Donatella Peca, Renata Boldrini, Jan Johannson, et al.
Neurology. Genetics
|
April 8, 2024
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy
Kun Leng, Cathryn R Cadwell, Walter P Devine, et al.
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2019
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
Bryce A Mendelsohn, Daniah T Beleford, Aya Abu-El-Haija, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2021
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys)
Jirat Chenbhanich, Yan Hu, Steven Hetts, et al.
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Search research articles
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Showing results (51-60 of 85) with videos related to
Sort By:
Page
of 9
Acta Neuropathologica
|
September 15, 2016
Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation
Joanna J Phillips, Henry Gong, Katharine Chen, et al.
Clinical Neuropathology
|
July 13, 2017
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history
Andrew K Chan, Seunggu J Han, Winward Choy, et al.
Oncotarget
|
October 15, 2016
GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity
Olle R Lindberg, Andrew McKinney, Jane R Engler, et al.
Biorxiv : the Preprint Server for Biology
|
February 8, 2024
Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy
Kun Leng, Cathryn R Cadwell, W Patrick Devine, et al.
European Journal of Human Genetics : EJHG
|
April 15, 2016
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Donatella Peca, Renata Boldrini, Jan Johannson, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2015
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations
Donatella Peca, Renata Boldrini, Jan Johannson, et al.
Neurology. Genetics
|
April 8, 2024
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy
Kun Leng, Cathryn R Cadwell, Walter P Devine, et al.
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2019
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
Bryce A Mendelsohn, Daniah T Beleford, Aya Abu-El-Haija, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2021
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys)
Jirat Chenbhanich, Yan Hu, Steven Hetts, et al.
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of 9