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Chen Hoffmann

Showing results (91-100 of 98) with videos related to

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Journal of Neurology|September 10, 2014
Costeff syndrome: clinical features and natural historyGilad Yahalom, Yair Anikster, Ruth Huna-Baron, et al.
Neuro-Oncology|December 3, 2014
Delayed contrast extravasation MRI: a new paradigm in neuro-oncologyLeor Zach, David Guez, David Last, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Molecular Genetics and Metabolism|August 26, 2019
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutationBen Pode-Shakked, Gali Heimer, Thierry Vilboux, et al.
Brain : a Journal of Neurology|April 2, 2017
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathyOrtal Barel, May Christine V Malicdan, Bruria Ben-Zeev, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Nature Communications|June 15, 2023
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Nature Communications|June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Pageof 10

Showing results (91-100 of 98) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 98 results.
Journal of Neurology|September 10, 2014
Costeff syndrome: clinical features and natural historyGilad Yahalom, Yair Anikster, Ruth Huna-Baron, et al.
Neuro-Oncology|December 3, 2014
Delayed contrast extravasation MRI: a new paradigm in neuro-oncologyLeor Zach, David Guez, David Last, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Molecular Genetics and Metabolism|August 26, 2019
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutationBen Pode-Shakked, Gali Heimer, Thierry Vilboux, et al.
Brain : a Journal of Neurology|April 2, 2017
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathyOrtal Barel, May Christine V Malicdan, Bruria Ben-Zeev, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Nature Communications|June 15, 2023
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Nature Communications|June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
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