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American Journal of Medical Genetics. Part A
|
June 7, 2022
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations
Holly Dubbs, Xilma Ortiz-Gonzalez, Eric D Marsh
Journal of Neurochemistry
|
December 1, 2025
Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK
Debora Tibbe, Hans-Hinrich Hönck, Neha Bhatia, et al.
Eneuro
|
March 28, 2025
Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference
Megan H Hagenauer, A David Redish, Daniela Schiller, et al.
American Journal of Medical Genetics. Part A
|
December 8, 2015
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development
Mary C Whitman, Caroline Andrews, Wai-Man Chan, et al.
Cell Stem Cell
|
August 3, 2019
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A
Fabian L Cardenas-Diaz, Catherine Osorio-Quintero, Maria A Diaz-Miranda, et al.
The Journal of Clinical Investigation
|
November 26, 2013
Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration
Erik S Musiek, Miranda M Lim, Guangrui Yang, et al.
Epilepsia
|
June 2, 2021
Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach
Mark P Fitzgerald, Michael C Kaufman, Shavonne L Massey, et al.
HGG Advances
|
October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
Brianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
American Journal of Human Genetics
|
August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Akemi J Tanaka, Megan T Cho, Francisca Millan, et al.
Epilepsia
|
March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findings
Colin A Ellis, Juliette Copeland, Isabella Velez, et al.
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of 2
Search research articles
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Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
June 7, 2022
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations
Holly Dubbs, Xilma Ortiz-Gonzalez, Eric D Marsh
Journal of Neurochemistry
|
December 1, 2025
Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK
Debora Tibbe, Hans-Hinrich Hönck, Neha Bhatia, et al.
Eneuro
|
March 28, 2025
Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference
Megan H Hagenauer, A David Redish, Daniela Schiller, et al.
American Journal of Medical Genetics. Part A
|
December 8, 2015
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development
Mary C Whitman, Caroline Andrews, Wai-Man Chan, et al.
Cell Stem Cell
|
August 3, 2019
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A
Fabian L Cardenas-Diaz, Catherine Osorio-Quintero, Maria A Diaz-Miranda, et al.
The Journal of Clinical Investigation
|
November 26, 2013
Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration
Erik S Musiek, Miranda M Lim, Guangrui Yang, et al.
Epilepsia
|
June 2, 2021
Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach
Mark P Fitzgerald, Michael C Kaufman, Shavonne L Massey, et al.
HGG Advances
|
October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
Brianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
American Journal of Human Genetics
|
August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Akemi J Tanaka, Megan T Cho, Francisca Millan, et al.
Epilepsia
|
March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findings
Colin A Ellis, Juliette Copeland, Isabella Velez, et al.
Page
of 2