Search Results - Nicholas Li
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1
Dose modifications in Asian cancer patients with hepatic dysfunction receiving weekly docetaxel: A prospective pharmacokinetic and safety study by Syn, Nicholas Li‐Xun, Wang, Lingzhi, Wong, Andrea Li‐Ann, Soe, Mu‐Yar, Chuah, Benjamin, Chan, Daniel, Tan, Sing‐Huang, Soo, Ross Andrew, Lee, Soo‐Chin, Goh, Boon‐Cher, Yong, Wei‐Peng
Published 2016Text -
2
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery by Xiaolei Zhang, Pantazis Theotokis, Nicholas Li, Euan Ashley, Steven D. Colan, Sharlene M. Day, Adam S. Helms, Carolyn Y. Ho, Jodie Ingles, Daniel Jacoby, Neal K. Lakdawala, Michelle Michels, Iacopo Olivotto, Anjali Owens, Victoria N. Parikh, Alexandre C. Pereira, Joseph Rossano, Sara Saberi, Chris Semsarian, Samuel G. Wittekind, Caroline F. Wright, Kaitlin E. Samocha, Nicola Whiffin, James S Ware
Published 2024Artigo -
3
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy by Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne E. Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan A. Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate Thomson, Hugh Watkins, Paul J.R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware
Published 2019Artigo -
4
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy by Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne E. Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan A. Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate Thomson, Hugh Watkins, Paul J.R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware
Published 2018Pré-impressão -
5
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions by Xiaolei Zhang, Roddy Walsh, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Risha Govind, Nicholas Li, Mian Ahmad, Francesco Mazzarotto, Angharad M. Roberts, Pantazis Theotokis, Erica Mazaika, Mona Allouba, Antonio de Marvao, Chee Jian Pua, Sharlene M. Day, Euan A. Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Iacopo Olivotto, Gunnar Gunnarsson, John L. Jefferies, Chris Semsarian, Jodie Ingles, Declan P. O’Regan, Yasmine Aguib, Magdi H. Yacoub, Stuart A. Cook, Paul J.R. Barton, Leonardo Bottolo, James S. Ware
Published 2020Pré-impressão -
6
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions by Xiaolei Zhang, Roddy Walsh, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Risha Govind, Nicholas Li, Mian Ahmad, Francesco Mazzarotto, Angharad M. Roberts, Pantazis Theotokis, Erica Mazaika, Mona Allouba, Antonio de Marvao, Chee Jian Pua, Sharlene M. Day, Euan A. Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Iacopo Olivotto, Gunnar Gunnarsson, John L. Jefferies, Chris Semsarian, Jodie Ingles, Declan P. O’Regan, Yasmine Aguib, Magdi H. Yacoub, Stuart A. Cook, Paul J.R. Barton, Leonardo Bottolo, James S. Ware
Published 2020Artigo
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Biology
Computational biology
Genetics
Gene
Internal medicine
Medicine
Computer science
Disease
Bioinformatics
Genetic testing
Genome
Human genetics
Hypertrophic cardiomyopathy
Mendelian inheritance
Microbiology
Missense mutation
Mutation
Pathogenicity
1000 Genomes Project
Artificial intelligence
Biochemistry
Classifier (UML)
Detector
Discriminator
Exome
Exome sequencing
Genetic variation
Genomics
Genotype
Human genome