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E Brenner

Showing results (651-660 of 694) with videos related to

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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.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|January 4, 2008
Phase III prevention trial of fenretinide in patients with resected non-muscle-invasive bladder cancerAnita L Sabichi, Seth P Lerner, E Neely Atkinson, et al.
Human Mutation|May 31, 2019
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challengeMarco Carraro, Alexander Miguel Monzon, Luigi Chiricosta, et al.
Human Mutation|June 27, 2019
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancerAlin Voskanian, Panagiotis Katsonis, Olivier Lichtarge, et al.
Pageof 70

Showing results (651-660 of 694) with videos related to

Sort By:
Pageof 70
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.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|January 4, 2008
Phase III prevention trial of fenretinide in patients with resected non-muscle-invasive bladder cancerAnita L Sabichi, Seth P Lerner, E Neely Atkinson, et al.
Human Mutation|May 31, 2019
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challengeMarco Carraro, Alexander Miguel Monzon, Luigi Chiricosta, et al.
Human Mutation|June 27, 2019
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancerAlin Voskanian, Panagiotis Katsonis, Olivier Lichtarge, et al.
Pageof 70