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Showing results (111-120 of 135) with videos related to

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Cancers|June 28, 2023
Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid CancersNikhil Shri Sahajpal, Ashis K Mondal, Harmanpreet Singh, et al.
Genes|September 28, 2023
Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score CalculationNikhil Shri Sahajpal, Ashis K Mondal, Ashutosh Vashisht, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)Christine M Armour, Dennis E Bulman, Olga Jarinova, et al.
Journal of Medical Genetics|June 3, 2015
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan typeRicarda Flöttmann, Johannes Wagner, Karolina Kobus, et al.
Journal of Immunological Methods|May 12, 2015
A fully-automated, six-plex single molecule immunoassay for measuring cytokines in bloodAndrew J Rivnak, David M Rissin, Cheuk W Kan, et al.
Genes|April 23, 2022
Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of ConceptionNikhil Shri Sahajpal, Ashis K Mondal, Sudha Ananth, et al.
European Journal of Human Genetics : EJHG|September 8, 2011
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndromeGustavo H Vieira, Jayson D Rodriguez, Paulina Carmona-Mora, et al.
Journal of Medical Genetics|September 23, 2008
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndromeM J Lyons, J M Graham, G Neri, et al.
American Journal of Medical Genetics|July 25, 1997
Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiencyC T Gay, L J Hardies, R A Rauch, et al.
Nature Genetics|January 13, 1998
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newbornsN A Singh, C Charlier, D Stauffer, et al.
Pageof 14

Showing results (111-120 of 135) with videos related to

Sort By:
Pageof 14
Cancers|June 28, 2023
Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid CancersNikhil Shri Sahajpal, Ashis K Mondal, Harmanpreet Singh, et al.
Genes|September 28, 2023
Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score CalculationNikhil Shri Sahajpal, Ashis K Mondal, Ashutosh Vashisht, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)Christine M Armour, Dennis E Bulman, Olga Jarinova, et al.
Journal of Medical Genetics|June 3, 2015
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan typeRicarda Flöttmann, Johannes Wagner, Karolina Kobus, et al.
Journal of Immunological Methods|May 12, 2015
A fully-automated, six-plex single molecule immunoassay for measuring cytokines in bloodAndrew J Rivnak, David M Rissin, Cheuk W Kan, et al.
Genes|April 23, 2022
Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of ConceptionNikhil Shri Sahajpal, Ashis K Mondal, Sudha Ananth, et al.
European Journal of Human Genetics : EJHG|September 8, 2011
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndromeGustavo H Vieira, Jayson D Rodriguez, Paulina Carmona-Mora, et al.
Journal of Medical Genetics|September 23, 2008
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndromeM J Lyons, J M Graham, G Neri, et al.
American Journal of Medical Genetics|July 25, 1997
Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiencyC T Gay, L J Hardies, R A Rauch, et al.
Nature Genetics|January 13, 1998
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newbornsN A Singh, C Charlier, D Stauffer, et al.
Pageof 14