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Ghayda M Mirzaa

Showing results (71-80 of 76) with videos related to

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Nature Communications|November 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M Zeitler, Margot R F Reijnders, et al.
Epilepsia|January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variantsSebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
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Showing results (71-80 of 76) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 76 results.
Nature Communications|November 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M Zeitler, Margot R F Reijnders, et al.
Epilepsia|January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variantsSebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
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