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Mustafa Sahin

Showing results (481-490 of 554) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Molecular Psychiatry|February 14, 2025
Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changesAngelica D'Amore, Maria Sundberg, Rui Lin, et al.
Research Square|July 3, 2023
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic ParaplegiaAfshin Saffari, Barbara Brechmann, Cedric Boeger, et al.
Scientific Reports|May 14, 2020
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Human Molecular Genetics|July 25, 2014
SMN regulates axonal local translation via miR-183/mTOR pathwayMin Jeong Kye, Emily D Niederst, Mary H Wertz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Autism Research : Official Journal of the International Society for Autism Research|May 15, 2020
Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid SyndromeKellie Gergoudis, Alan Weinberg, Jonathan Templin, et al.
Iscience|September 5, 2022
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndromeStephanie A Zlatic, Duc Duong, Kamal K E Gadalla, et al.
Epilepsia|November 7, 2019
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational studyJoyce Y Wu, Monisha Goyal, Jurriaan M Peters, et al.
Scientific Reports|May 23, 2018
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Pageof 56

Showing results (481-490 of 554) with videos related to

Sort By:
Pageof 56
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2019
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Molecular Psychiatry|February 14, 2025
Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changesAngelica D'Amore, Maria Sundberg, Rui Lin, et al.
Research Square|July 3, 2023
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic ParaplegiaAfshin Saffari, Barbara Brechmann, Cedric Boeger, et al.
Scientific Reports|May 14, 2020
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Human Molecular Genetics|July 25, 2014
SMN regulates axonal local translation via miR-183/mTOR pathwayMin Jeong Kye, Emily D Niederst, Mary H Wertz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Autism Research : Official Journal of the International Society for Autism Research|May 15, 2020
Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid SyndromeKellie Gergoudis, Alan Weinberg, Jonathan Templin, et al.
Iscience|September 5, 2022
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndromeStephanie A Zlatic, Duc Duong, Kamal K E Gadalla, et al.
Epilepsia|November 7, 2019
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational studyJoyce Y Wu, Monisha Goyal, Jurriaan M Peters, et al.
Scientific Reports|May 23, 2018
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophyInês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, et al.
Pageof 56