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Cindy Skinner

Showing results (61-70 of 81) with videos related to

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American Journal of Human Genetics|February 18, 2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, et al.
European Journal of Human Genetics : EJHG|December 1, 2023
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
Molecular Cell|October 16, 2012
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiationGuntram Borck, Byung-Sik Shin, Barbara Stiller, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
BMJ Open|May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, et al.
HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.
Human Molecular Genetics|August 18, 2022
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disordersStacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
Pageof 9

Showing results (61-70 of 81) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|February 18, 2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, et al.
European Journal of Human Genetics : EJHG|December 1, 2023
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.
Molecular Cell|October 16, 2012
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiationGuntram Borck, Byung-Sik Shin, Barbara Stiller, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
BMJ Open|May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, et al.
HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.
Human Molecular Genetics|August 18, 2022
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disordersStacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
Pageof 9