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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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Elizabeth A Jones

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Journal of Inherited Metabolic Disease|March 18, 2021

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Miao He, Andrew C Edmondson, et al.

European Journal of Human Genetics : EJHG|November 27, 2014

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.

Human Molecular Genetics|January 31, 2015

Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.

Journal of Medical Genetics|April 21, 2021

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2025

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencingBethany Stafford-Smith, Morgan Daniel, Michelle Peter, et al.

The Journal of Biological Chemistry|October 11, 2013

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.

Nature Communications|August 6, 2024

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinementChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.

Nature Genetics|July 4, 2018

Adaptation and conservation insights from the koala genomeRebecca N Johnson, Denis O'Meally, Zhiliang Chen, et al.

American Journal of Medical Genetics. Part A|October 8, 2020

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.

American Journal of Human Genetics|July 16, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, et al.

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Search research articles

Showing results (61-70 of 70) with videos related to

Sort By:

Pageof 7

You have reached the last page of results.This site can display upto 70 results.

Journal of Inherited Metabolic Disease|March 18, 2021

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Miao He, Andrew C Edmondson, et al.

European Journal of Human Genetics : EJHG|November 27, 2014

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.

Human Molecular Genetics|January 31, 2015

Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.

Journal of Medical Genetics|April 21, 2021

Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2025

The Journal of Biological Chemistry|October 11, 2013

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.

Nature Communications|August 6, 2024

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinementChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.

Nature Genetics|July 4, 2018

Adaptation and conservation insights from the koala genomeRebecca N Johnson, Denis O'Meally, Zhiliang Chen, et al.

American Journal of Medical Genetics. Part A|October 8, 2020

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.

American Journal of Human Genetics|July 16, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, et al.

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