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Guillermo Del Angel

Showing results (1-10 of 20) with videos related to

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Plos One|March 20, 2019
Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSAChristopher Negron, David A Pearlman, Guillermo Del Angel
Human Mutation|March 12, 2020
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasiaGuillermo Del Angel, John Reynders, Christopher Negron, et al.
Molecular Genetics and Metabolism|April 5, 2021
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfaPriya S Kishnani, Guillermo Del Angel, Shanggen Zhou, et al.
Molecular Biology Reports|September 14, 2024
Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variantsLothar Seefried, Anna Petryk, Guillermo Del Angel, et al.
Human Mutation|June 11, 2019
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiencyGuillermo Del Angel, Andrew T Hutchinson, Nina K Jain, et al.
Molecular Genetics and Metabolism|February 21, 2025
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United StatesEric T Rush, Guillermo Del Angel, Juan Dong, et al.
Human Mutation|July 15, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport ActivitiesJenifer S Calvo, Tomáš Heger, Ekaterina Kabin, et al.
Journal of Inherited Metabolic Disease|October 5, 2025
Revisiting the Genetics of HypophosphatasiaPriya S Kishnani, Catherine Rehder, Keiichi Ozono, et al.
Blood|June 30, 2021
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classificationHector Martín Merinero, Yuzhou Zhang, Emilia Arjona, et al.
Current Protocols in Bioinformatics|November 29, 2014
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipelineGeraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Plos One|March 20, 2019
Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSAChristopher Negron, David A Pearlman, Guillermo Del Angel
Human Mutation|March 12, 2020
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasiaGuillermo Del Angel, John Reynders, Christopher Negron, et al.
Molecular Genetics and Metabolism|April 5, 2021
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfaPriya S Kishnani, Guillermo Del Angel, Shanggen Zhou, et al.
Molecular Biology Reports|September 14, 2024
Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variantsLothar Seefried, Anna Petryk, Guillermo Del Angel, et al.
Human Mutation|June 11, 2019
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiencyGuillermo Del Angel, Andrew T Hutchinson, Nina K Jain, et al.
Molecular Genetics and Metabolism|February 21, 2025
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United StatesEric T Rush, Guillermo Del Angel, Juan Dong, et al.
Human Mutation|July 15, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport ActivitiesJenifer S Calvo, Tomáš Heger, Ekaterina Kabin, et al.
Journal of Inherited Metabolic Disease|October 5, 2025
Revisiting the Genetics of HypophosphatasiaPriya S Kishnani, Catherine Rehder, Keiichi Ozono, et al.
Blood|June 30, 2021
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classificationHector Martín Merinero, Yuzhou Zhang, Emilia Arjona, et al.
Current Protocols in Bioinformatics|November 29, 2014
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipelineGeraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, et al.
Pageof 2