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A Minassian

Showing results (181-190 of 324) with videos related to

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Molecular Pharmaceutics|June 24, 2015
Efficient Delivery of Structurally Diverse Protein Cargo into Mammalian Cells by a Bacterial ToxinAnick Auger, Minyoung Park, Felix Nitschke, et al.
Neurology|August 12, 2004
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locusE M Chan, S Omer, M Ahmed, et al.
Human Mutation|September 1, 2005
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genesLeonarda Ianzano, Junjun Zhang, Elayne M Chan, et al.
American Journal of Medical Genetics. Part A|December 5, 2024
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical PhenotypeSaima Kayani, Victor Daescu, Hamza Dahshi, et al.
The Journal of Urology|March 14, 2019
Outpatient Evaluation and Management Visits for Urinary Incontinence in Older WomenElisabeth Erekson, Kaitlin A Hagan, Andrea Austin, et al.
Neurology. Genetics|June 20, 2017
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotypeRubina Dad, Susan Walker, Stephen W Scherer, et al.
Neurology|August 10, 2000
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsyB A Minassian, L Ianzano, M Meloche, et al.
Urogynecology (Philadelphia, Pa.)|December 23, 2024
Reasons for Missed AppointmentsRachan Ghandour, Jeannine M Miranne, Julia Shen, et al.
Orphanet Journal of Rare Diseases|December 20, 2024
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skillsSaima Kayani, Veronica BordesEdgar, Andrea Lowden, et al.
Journal of Medical Genetics|April 5, 2007
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patientsY Petel-Galil, B Ben-Zeev, I Greenbaum, et al.
Pageof 33

Showing results (181-190 of 324) with videos related to

Sort By:
Pageof 33
Molecular Pharmaceutics|June 24, 2015
Efficient Delivery of Structurally Diverse Protein Cargo into Mammalian Cells by a Bacterial ToxinAnick Auger, Minyoung Park, Felix Nitschke, et al.
Neurology|August 12, 2004
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locusE M Chan, S Omer, M Ahmed, et al.
Human Mutation|September 1, 2005
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genesLeonarda Ianzano, Junjun Zhang, Elayne M Chan, et al.
American Journal of Medical Genetics. Part A|December 5, 2024
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical PhenotypeSaima Kayani, Victor Daescu, Hamza Dahshi, et al.
The Journal of Urology|March 14, 2019
Outpatient Evaluation and Management Visits for Urinary Incontinence in Older WomenElisabeth Erekson, Kaitlin A Hagan, Andrea Austin, et al.
Neurology. Genetics|June 20, 2017
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotypeRubina Dad, Susan Walker, Stephen W Scherer, et al.
Neurology|August 10, 2000
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsyB A Minassian, L Ianzano, M Meloche, et al.
Urogynecology (Philadelphia, Pa.)|December 23, 2024
Reasons for Missed AppointmentsRachan Ghandour, Jeannine M Miranne, Julia Shen, et al.
Orphanet Journal of Rare Diseases|December 20, 2024
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skillsSaima Kayani, Veronica BordesEdgar, Andrea Lowden, et al.
Journal of Medical Genetics|April 5, 2007
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patientsY Petel-Galil, B Ben-Zeev, I Greenbaum, et al.
Pageof 33