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Showing results (551-560 of 915) with videos related to

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Epilepsy & Behavior : E&B|January 18, 2019
STXBP1 encephalopathy is associated with awake bruxismArezoo Rezazadeh, Mohammed Uddin, O Carter Snead, et al.
Frontiers in Pharmacology|May 26, 2023
Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing dataLuciana Bertholim-Nasciben, Marilia O Scliar, Guilherme Debortoli, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 16, 2016
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASDAnne Claire Richard, Anne Rovelet-Lecrux, Elsa Delaby, et al.
Nature Genetics|September 30, 2010
Public data archives for genomic structural variationDeanna M Church, Ilkka Lappalainen, Tam P Sneddon, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
Frontiers in Cellular Neuroscience|January 31, 2024
Disruption of the autism-associated gene <i>SCN2A</i> alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neuronsChad O Brown, Jarryll A Uy, Nadeem Murtaza, et al.
Oncogene|December 22, 1999
Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocationsM M Corcoran, S J Mould, J A Orchard, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 17, 2008
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18qJohn B Vincent, Abdul Noor, Christian Windpassinger, et al.
Genomics|February 13, 2001
Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2S Hadano, Y Yanagisawa, J Skaug, et al.
Plos Genetics|June 12, 2013
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autismHyun Ji Noh, Chris P Ponting, Hannah C Boulding, et al.
Pageof 92

Showing results (551-560 of 915) with videos related to

Sort By:
Pageof 92
Epilepsy & Behavior : E&B|January 18, 2019
STXBP1 encephalopathy is associated with awake bruxismArezoo Rezazadeh, Mohammed Uddin, O Carter Snead, et al.
Frontiers in Pharmacology|May 26, 2023
Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing dataLuciana Bertholim-Nasciben, Marilia O Scliar, Guilherme Debortoli, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 16, 2016
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASDAnne Claire Richard, Anne Rovelet-Lecrux, Elsa Delaby, et al.
Nature Genetics|September 30, 2010
Public data archives for genomic structural variationDeanna M Church, Ilkka Lappalainen, Tam P Sneddon, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
Frontiers in Cellular Neuroscience|January 31, 2024
Disruption of the autism-associated gene <i>SCN2A</i> alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neuronsChad O Brown, Jarryll A Uy, Nadeem Murtaza, et al.
Oncogene|December 22, 1999
Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocationsM M Corcoran, S J Mould, J A Orchard, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 17, 2008
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18qJohn B Vincent, Abdul Noor, Christian Windpassinger, et al.
Genomics|February 13, 2001
Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2S Hadano, Y Yanagisawa, J Skaug, et al.
Plos Genetics|June 12, 2013
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autismHyun Ji Noh, Chris P Ponting, Hannah C Boulding, et al.
Pageof 92