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Joseph D Buxbaum

Showing results (241-250 of 361) with videos related to

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Clinical Genetics|November 27, 2024
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical ManifestationsLisa Pavinato, Silvia Carestiato, Slavica Trajkova, et al.
Molecular Autism|December 21, 2010
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationOzlem Bozdagi, Takeshi Sakurai, Danae Papapetrou, et al.
HGG Advances|September 19, 2022
An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndromeAlexander Kolevzon, Tess Levy, Sarah Barkley, et al.
Genes|March 6, 2021
Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism DiagnosisPaige M Siper, Christina Layton, Tess Levy, et al.
Plos One|February 6, 2013
Copy number variations in alternative splicing gene networks impact lifespanJoseph T Glessner, Albert Vernon Smith, Saarene Panossian, et al.
Nature Genetics|July 21, 2014
Most genetic risk for autism resides with common variationTrent Gaugler, Lambertus Klei, Stephan J Sanders, et al.
Nature Genetics|February 14, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samplesJack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, et al.
Journal of Neurodevelopmental Disorders|May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndromeTess Levy, Jacob Gluckman, Paige M Siper, et al.
Molecular Autism|November 2, 2017
Prospective investigation of FOXP1 syndromePaige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, et al.
American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of ChangeCristan Farmer, Audrey Thurm, Tanvi Das, et al.
Pageof 37

Showing results (241-250 of 361) with videos related to

Sort By:
Pageof 37
Clinical Genetics|November 27, 2024
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical ManifestationsLisa Pavinato, Silvia Carestiato, Slavica Trajkova, et al.
Molecular Autism|December 21, 2010
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationOzlem Bozdagi, Takeshi Sakurai, Danae Papapetrou, et al.
HGG Advances|September 19, 2022
An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndromeAlexander Kolevzon, Tess Levy, Sarah Barkley, et al.
Genes|March 6, 2021
Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism DiagnosisPaige M Siper, Christina Layton, Tess Levy, et al.
Plos One|February 6, 2013
Copy number variations in alternative splicing gene networks impact lifespanJoseph T Glessner, Albert Vernon Smith, Saarene Panossian, et al.
Nature Genetics|July 21, 2014
Most genetic risk for autism resides with common variationTrent Gaugler, Lambertus Klei, Stephan J Sanders, et al.
Nature Genetics|February 14, 2017
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samplesJack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, et al.
Journal of Neurodevelopmental Disorders|May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndromeTess Levy, Jacob Gluckman, Paige M Siper, et al.
Molecular Autism|November 2, 2017
Prospective investigation of FOXP1 syndromePaige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, et al.
American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of ChangeCristan Farmer, Audrey Thurm, Tanvi Das, et al.
Pageof 37