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D Symonds

Showing results (41-50 of 47) with videos related to

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Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
American Journal of Human Genetics|July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
American Journal of Human Genetics|July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Pageof 5