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Richard H Scott

Showing results (21-30 of 56) with videos related to

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American Journal of Medical Genetics. Part A|September 15, 2015
Familial recurrences of FOXG1-related disorder: Evidence for mosaicismKelly Q McMahon, Apostolos Papandreou, Mandy Ma, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Frontiers in Genetics|June 17, 2022
Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-designAmanda Pichini, Arzoo Ahmed, Christine Patch, et al.
American Journal of Human Genetics|March 11, 2025
The expanding global genomics landscape: Converging priorities from national genomics programsCaitlin Howley, Matilda A Haas, Wadha A Al Muftah, et al.
European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
Nature Genetics|September 19, 2017
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle controlFederico Tessadori, Jacques C Giltay, Jane A Hurst, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Nature Medicine|November 27, 2025
Determining the value of genomics in healthcareIlias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.
Nature Reviews. Genetics|October 7, 2024
A call to action to scale up research and clinical genomic data sharingZornitza Stark, David Glazer, Oliver Hofmann, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Pageof 6

Showing results (21-30 of 56) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|September 15, 2015
Familial recurrences of FOXG1-related disorder: Evidence for mosaicismKelly Q McMahon, Apostolos Papandreou, Mandy Ma, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Frontiers in Genetics|June 17, 2022
Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-designAmanda Pichini, Arzoo Ahmed, Christine Patch, et al.
American Journal of Human Genetics|March 11, 2025
The expanding global genomics landscape: Converging priorities from national genomics programsCaitlin Howley, Matilda A Haas, Wadha A Al Muftah, et al.
European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
Nature Genetics|September 19, 2017
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle controlFederico Tessadori, Jacques C Giltay, Jane A Hurst, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Nature Medicine|November 27, 2025
Determining the value of genomics in healthcareIlias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.
Nature Reviews. Genetics|October 7, 2024
A call to action to scale up research and clinical genomic data sharingZornitza Stark, David Glazer, Oliver Hofmann, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Pageof 6