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J Amor

Showing results (381-390 of 430) with videos related to

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Neuron|October 6, 2019
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune ResponseJennifer L Johnson, Loredana Stoica, Yuwei Liu, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Transplantation|March 15, 2022
Donor-derived Cell-free DNA Shows High Sensitivity for the Diagnosis of Pancreas Graft Rejection in Simultaneous Pancreas-kidney TransplantationPedro Ventura-Aguiar, Maria Jose Ramirez-Bajo, Jordi Rovira, et al.
European Journal of Medical Genetics|March 25, 2009
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individualsE K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, et al.
Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.
American Journal of Medical Genetics. Part A|August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individualsDeepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
Nature Medicine|October 9, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening studySebastian Lunke, Lilian Downie, Jade Caruana, et al.
Pageof 43

Showing results (381-390 of 430) with videos related to

Sort By:
Pageof 43
Neuron|October 6, 2019
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune ResponseJennifer L Johnson, Loredana Stoica, Yuwei Liu, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Transplantation|March 15, 2022
Donor-derived Cell-free DNA Shows High Sensitivity for the Diagnosis of Pancreas Graft Rejection in Simultaneous Pancreas-kidney TransplantationPedro Ventura-Aguiar, Maria Jose Ramirez-Bajo, Jordi Rovira, et al.
European Journal of Medical Genetics|March 25, 2009
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individualsE K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, et al.
Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.
American Journal of Medical Genetics. Part A|August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individualsDeepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
Nature Medicine|October 9, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening studySebastian Lunke, Lilian Downie, Jade Caruana, et al.
Pageof 43