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Mustafa Sahin

Showing results (511-520 of 554) with videos related to

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American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental ConstructsTess Levy, Cristan Farmer, Siddharth Srivastava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 7, 2023
Clinical variants paired with phenotype: A rich resource for brain gene curationMaya Chopra, Juliann M Savatt, Taylor I Bingaman, et al.
Brain Communications|November 3, 2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian E Alecu, Barbara Brechmann, et al.
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging|June 21, 2022
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosisMaaike Nijman, Edward Yang, Camilo Jaimes, et al.
Epilepsia|June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyAnnapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Epilepsia|November 19, 2025
Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complexIván Sánchez Fernández, Matheus D Soldatelli, Gillian N Miller, et al.
Annals of Clinical and Translational Neurology|August 7, 2023
Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitorSameer C Dhamne, Meera E Modi, Audrey Gray, et al.
American Journal of Medical Genetics. Part A|September 11, 2024
Aortic Root Dilation and Genotype Associations in Phelan-McDermid SyndromeJake Gluckman, Tess Levy, Kate Friedman, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 16, 2025
Genome Sequencing Uncovers Additional Findings in Phelan-McDermid SyndromeRachel Gore Moses, Morgan Similuk, Alexandra Hehn, et al.
Annals of Neurology|August 28, 2023
Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT TrialElizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, et al.
Pageof 56

Showing results (511-520 of 554) with videos related to

Sort By:
Pageof 56
American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental ConstructsTess Levy, Cristan Farmer, Siddharth Srivastava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 7, 2023
Clinical variants paired with phenotype: A rich resource for brain gene curationMaya Chopra, Juliann M Savatt, Taylor I Bingaman, et al.
Brain Communications|November 3, 2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian E Alecu, Barbara Brechmann, et al.
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging|June 21, 2022
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosisMaaike Nijman, Edward Yang, Camilo Jaimes, et al.
Epilepsia|June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyAnnapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Epilepsia|November 19, 2025
Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complexIván Sánchez Fernández, Matheus D Soldatelli, Gillian N Miller, et al.
Annals of Clinical and Translational Neurology|August 7, 2023
Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitorSameer C Dhamne, Meera E Modi, Audrey Gray, et al.
American Journal of Medical Genetics. Part A|September 11, 2024
Aortic Root Dilation and Genotype Associations in Phelan-McDermid SyndromeJake Gluckman, Tess Levy, Kate Friedman, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 16, 2025
Genome Sequencing Uncovers Additional Findings in Phelan-McDermid SyndromeRachel Gore Moses, Morgan Similuk, Alexandra Hehn, et al.
Annals of Neurology|August 28, 2023
Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT TrialElizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, et al.
Pageof 56