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Cindy Skinner

Showing results (71-80 of 81) with videos related to

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Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Nature Communications|July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathyYu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.
The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizuresMariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
Nature Genetics|August 21, 2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick S Tarpey, F Lucy Raymond, Lam S Nguyen, et al.
Nature Genetics|April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsElisabeth Bosch, Bernt Popp, Esther Güse, et al.
The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.
Pageof 9

Showing results (71-80 of 81) with videos related to

Sort By:
Pageof 9
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Nature Communications|July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathyYu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.
The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizuresMariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
Nature Genetics|August 21, 2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick S Tarpey, F Lucy Raymond, Lam S Nguyen, et al.
Nature Genetics|April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsElisabeth Bosch, Bernt Popp, Esther Güse, et al.
The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.
Pageof 9