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Steven E Brenner

Showing results (131-140 of 166) with videos related to

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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.
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.
Journal of Structural and Functional Genomics|October 8, 2005
Structural genomics of minimal organisms and protein fold spaceSung-Hou Kim, Dong Hae Shin, Jinyu Liu, et al.
Human Mutation|April 26, 2017
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGIMarco Carraro, Giovanni Minervini, Manuel Giollo, et al.
Human Mutation|July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseasesLaura Kasak, Jesse M Hunter, Rupa Udani, et al.
Human Genetics|August 7, 2024
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6Jing Zhang, Lisa Kinch, Panagiotis Katsonis, et al.
Human Mutation|July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.
Molecular & Cellular Proteomics : MCP|February 14, 2016
Bacterial Interactomes: Interacting Protein Partners Share Similar Function and Are Validated in Independent Assays More Frequently Than Previously ReportedMaxim Shatsky, Simon Allen, Barbara L Gold, et al.
Pageof 17

Showing results (131-140 of 166) with videos related to

Sort By:
Pageof 17
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.
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.
Journal of Structural and Functional Genomics|October 8, 2005
Structural genomics of minimal organisms and protein fold spaceSung-Hou Kim, Dong Hae Shin, Jinyu Liu, et al.
Human Mutation|April 26, 2017
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGIMarco Carraro, Giovanni Minervini, Manuel Giollo, et al.
Human Mutation|July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseasesLaura Kasak, Jesse M Hunter, Rupa Udani, et al.
Human Genetics|August 7, 2024
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6Jing Zhang, Lisa Kinch, Panagiotis Katsonis, et al.
Human Mutation|July 26, 2019
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016Wyatt T Clark, Laura Kasak, Constantina Bakolitsa, et al.
Molecular & Cellular Proteomics : MCP|February 14, 2016
Bacterial Interactomes: Interacting Protein Partners Share Similar Function and Are Validated in Independent Assays More Frequently Than Previously ReportedMaxim Shatsky, Simon Allen, Barbara L Gold, et al.
Pageof 17