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Human mutation

Showing results (221-230 of 6,541) with videos related to

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Human Mutation|December 21, 2013
An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung diseaseLaure Lecerf, Anthula Kavo, Macarena Ruiz-Ferrer, et al.
Human Mutation|December 20, 2013
Tumor heterogeneity revealed by KRAS, BRAF, and PIK3CA pyrosequencing: KRAS and PIK3CA intratumor mutation profile differences and their therapeutic implicationsVivian Kosmidou, Eftychia Oikonomou, Margarita Vlassi, et al.
Human Mutation|November 5, 2013
Variobox: automatic detection and annotation of human genetic variantsPaulo Gaspar, Pedro Lopes, Jorge Oliveira, et al.
Human Mutation|November 5, 2013
Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathwayLaia Paré-Brunet, Dylan Glubb, Patrick Evans, et al.
Human Mutation|September 2, 2022
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variantsAbhijit Rath, Alexander A Radecki, Kaussar Rahman, et al.
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Human Mutation|September 2, 2022
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizersEva Tosco-Herrera, Adrián Muñoz-Barrera, David Jáspez, et al.
Human Mutation|January 10, 2022
Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 geneRalph van Mazijk, Annechien E G Haarman, Lies H Hoefsloot, et al.
Human Mutation|December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderSmitha Kumble, Amanda M Levy, Jaya Punetha, et al.
Human Mutation|December 3, 2021
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactylyMarilena Melas, Esko A Kautto, Samuel J Franklin, et al.
Pageof 655

Showing results (221-230 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|December 21, 2013
An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung diseaseLaure Lecerf, Anthula Kavo, Macarena Ruiz-Ferrer, et al.
Human Mutation|December 20, 2013
Tumor heterogeneity revealed by KRAS, BRAF, and PIK3CA pyrosequencing: KRAS and PIK3CA intratumor mutation profile differences and their therapeutic implicationsVivian Kosmidou, Eftychia Oikonomou, Margarita Vlassi, et al.
Human Mutation|November 5, 2013
Variobox: automatic detection and annotation of human genetic variantsPaulo Gaspar, Pedro Lopes, Jorge Oliveira, et al.
Human Mutation|November 5, 2013
Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathwayLaia Paré-Brunet, Dylan Glubb, Patrick Evans, et al.
Human Mutation|September 2, 2022
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variantsAbhijit Rath, Alexander A Radecki, Kaussar Rahman, et al.
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Human Mutation|September 2, 2022
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizersEva Tosco-Herrera, Adrián Muñoz-Barrera, David Jáspez, et al.
Human Mutation|January 10, 2022
Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 geneRalph van Mazijk, Annechien E G Haarman, Lies H Hoefsloot, et al.
Human Mutation|December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderSmitha Kumble, Amanda M Levy, Jaya Punetha, et al.
Human Mutation|December 3, 2021
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactylyMarilena Melas, Esko A Kautto, Samuel J Franklin, et al.
Pageof 655