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Andrew E Fry

Showing results (31-40 of 59) with videos related to

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American Journal of Medical Genetics. Part A|April 23, 2020
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature reviewAnna Durkin, Shadi Albaba, Andrew E Fry, et al.
European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Nature Communications|February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidineVíctor Faundes, Martin D Jennings, Siobhan Crilly, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
BMC Medical Genetics|April 27, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAndrew E Fry, Elliott Rees, Rose Thompson, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.
American Journal of Human Genetics|October 23, 2018
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal FeaturesPeter D Turnpenny, Michael J Wright, Melissa Sloman, et al.
Pageof 6

Showing results (31-40 of 59) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|April 23, 2020
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature reviewAnna Durkin, Shadi Albaba, Andrew E Fry, et al.
European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Nature Communications|February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidineVíctor Faundes, Martin D Jennings, Siobhan Crilly, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
BMC Medical Genetics|April 27, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAndrew E Fry, Elliott Rees, Rose Thompson, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersAnkur Chaurasia, Anju Shukla, Shruti Pande, et al.
Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.
American Journal of Human Genetics|October 23, 2018
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal FeaturesPeter D Turnpenny, Michael J Wright, Melissa Sloman, et al.
Pageof 6