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Helen V Firth

Showing results (71-80 of 116) with videos related to

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Human Mutation|August 20, 2015
Diagnostic interpretation of array data using public databases and internet sourcesNicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2024
Mapping MAVE data for use in human genomics applicationsJeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
Nature Genetics|August 15, 2006
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityCharles Shaw-Smith, Alan M Pittman, Lionel Willatt, et al.
Nature Communications|December 6, 2023
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variationElizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, et al.
Human Molecular Genetics|March 24, 2016
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityDragana J Josifova, Glen R Monroe, Federico Tessadori, et al.
Journal of Medical Genetics|April 10, 2019
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA reportAmanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, et al.
Nature Genetics|July 16, 2008
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57Deborah J G Mackay, Jonathan L A Callaway, Sophie M Marks, et al.
Nature|November 20, 2024
Examining the role of common variants in rare neurodevelopmental conditionsQin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, et al.
Human Mutation|July 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorderBeau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, et al.
Pageof 12

Showing results (71-80 of 116) with videos related to

Sort By:
Pageof 12
Human Mutation|August 20, 2015
Diagnostic interpretation of array data using public databases and internet sourcesNicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2024
Mapping MAVE data for use in human genomics applicationsJeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
Nature Genetics|August 15, 2006
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disabilityCharles Shaw-Smith, Alan M Pittman, Lionel Willatt, et al.
Nature Communications|December 6, 2023
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variationElizabeth J Radford, Hong-Kee Tan, Malin H L Andersson, et al.
Human Molecular Genetics|March 24, 2016
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityDragana J Josifova, Glen R Monroe, Federico Tessadori, et al.
Journal of Medical Genetics|April 10, 2019
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA reportAmanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, et al.
Nature Genetics|July 16, 2008
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57Deborah J G Mackay, Jonathan L A Callaway, Sophie M Marks, et al.
Nature|November 20, 2024
Examining the role of common variants in rare neurodevelopmental conditionsQin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, et al.
Human Mutation|July 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorderBeau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, et al.
Pageof 12