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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 15, 2022
Newborn screening for neurodevelopmental diseases: Are we there yet?Wendy K Chung, Jonathan S Berg, Jeffrey R Botkin, et al.Journal of Proteome Research|October 27, 2012
High-throughput isolation and characterization of untagged membrane protein complexes: outer membrane complexes of Desulfovibrio vulgarisPeter J Walian, Simon Allen, Maxim Shatsky, et al.Human Mutation|May 30, 2019
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challengesGregory McInnes, Roxana Daneshjou, Panagiostis Katsonis, et al.NPJ Genomic Medicine|September 24, 2021
Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.Genome Research|October 9, 2002
The Bioperl toolkit: Perl modules for the life sciencesJason E Stajich, David Block, Kris Boulez, et al.Human Genetics|February 11, 2025
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancersYile Chen, Kyoungyeul Lee, Junwoo Woo, et al.Research Square|July 16, 2024
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancersYile Chen, Kyoungyeul Lee, Junwoo Woo, et al.Human Mutation|July 2, 2019
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5Alexander Miguel Monzon, Marco Carraro, Luigi Chiricosta, et al.Human Mutation|June 19, 2019
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challengeCastrense Savojardo, Maria Petrosino, Giulia Babbi, et al.Nature Medicine|August 12, 2020
The role of exome sequencing in newborn screening for inborn errors of metabolismAashish N Adhikari, Renata C Gallagher, Yaqiong Wang, et al.Pageof 18