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Frontiers in Radiology
|
June 3, 2026
Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities
Elise A Ferreira, Machteld M Oud, Erik-Jan Kamsteeg, et al.
Clinical Genetics
|
January 21, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction
Daan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, et al.
Acta Neuropathologica
|
June 17, 2022
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy
Woutje M Berdowski, Herma C van der Linde, Marjolein Breur, et al.
BMC Neurology
|
August 17, 2023
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates
Daphne H Schoenmakers, Prisca S Leferink, Adeline Vanderver, et al.
Brain : a Journal of Neurology
|
September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Susanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 15, 2003
Genome sequence of the cyanobacterium Prochlorococcus marinus SS120, a nearly minimal oxyphototrophic genome
Alexis Dufresne, Marcel Salanoubat, Frédéric Partensky, et al.
American Journal of Human Genetics
|
April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
Cas Simons, Nicole I Wolf, Nathan McNeil, et al.
The Oncologist
|
February 27, 2023
Analysis of Female Participant Representation in Registered Oncology Clinical Trials in the United States from 2008 to 2020
Nirosha D Perera, Tiffany R Bellomo, Walker M Schmidt, et al.
Cell Reports
|
February 24, 2017
T Regulatory Cells Support Plasma Cell Populations in the Bone Marrow
Arielle Glatman Zaretsky, Christoph Konradt, Fabien Dépis, et al.
Neurology
|
April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disorders
Roberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
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of 90
Search research articles
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Showing results (811-820 of 898) with videos related to
Sort By:
Page
of 90
Frontiers in Radiology
|
June 3, 2026
Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities
Elise A Ferreira, Machteld M Oud, Erik-Jan Kamsteeg, et al.
Clinical Genetics
|
January 21, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction
Daan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, et al.
Acta Neuropathologica
|
June 17, 2022
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy
Woutje M Berdowski, Herma C van der Linde, Marjolein Breur, et al.
BMC Neurology
|
August 17, 2023
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates
Daphne H Schoenmakers, Prisca S Leferink, Adeline Vanderver, et al.
Brain : a Journal of Neurology
|
September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Susanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 15, 2003
Genome sequence of the cyanobacterium Prochlorococcus marinus SS120, a nearly minimal oxyphototrophic genome
Alexis Dufresne, Marcel Salanoubat, Frédéric Partensky, et al.
American Journal of Human Genetics
|
April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
Cas Simons, Nicole I Wolf, Nathan McNeil, et al.
The Oncologist
|
February 27, 2023
Analysis of Female Participant Representation in Registered Oncology Clinical Trials in the United States from 2008 to 2020
Nirosha D Perera, Tiffany R Bellomo, Walker M Schmidt, et al.
Cell Reports
|
February 24, 2017
T Regulatory Cells Support Plasma Cell Populations in the Bone Marrow
Arielle Glatman Zaretsky, Christoph Konradt, Fabien Dépis, et al.
Neurology
|
April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disorders
Roberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Page
of 90