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Showing results (391-400 of 430) with videos related to

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Nature Genetics|September 29, 2014
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresDavor Lessel, Bruno Vaz, Swagata Halder, et al.
Diabetes Technology & Therapeutics|May 29, 2026
Increased Glycation Ratio and Risk of Complications in Latent Autoimmune Diabetes in Adults Compared With Type 1 Diabetes Onset before 30 Years: A Cohort StudySandra Herranz-Antolín, Fernando Gómez-Peralta, Xu Yongjin, et al.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 16, 2013
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsT Roscioli, G Elakis, T C Cox, et al.
Nature Genetics|May 22, 2012
Dominant missense mutations in ABCC9 cause Cantú syndromeMagdalena Harakalova, Jeske J T van Harssel, Paulien A Terhal, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
Circulation|July 9, 2017
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK SignalingMustapha Amyere, Nicole Revencu, Raphaël Helaers, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Pageof 43

Showing results (391-400 of 430) with videos related to

Sort By:
Pageof 43
Nature Genetics|September 29, 2014
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresDavor Lessel, Bruno Vaz, Swagata Halder, et al.
Diabetes Technology & Therapeutics|May 29, 2026
Increased Glycation Ratio and Risk of Complications in Latent Autoimmune Diabetes in Adults Compared With Type 1 Diabetes Onset before 30 Years: A Cohort StudySandra Herranz-Antolín, Fernando Gómez-Peralta, Xu Yongjin, et al.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 16, 2013
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsT Roscioli, G Elakis, T C Cox, et al.
Nature Genetics|May 22, 2012
Dominant missense mutations in ABCC9 cause Cantú syndromeMagdalena Harakalova, Jeske J T van Harssel, Paulien A Terhal, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
Circulation|July 9, 2017
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK SignalingMustapha Amyere, Nicole Revencu, Raphaël Helaers, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Pageof 43