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Garry R Cutting

Showing results (141-150 of 158) with videos related to

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Nature Genetics|August 27, 2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator genePatrick R Sosnay, Karen R Siklosi, Fredrick Van Goor, et al.
Plos Genetics|February 27, 2019
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier lociJiafen Gong, Fan Wang, Bowei Xiao, et al.
Human Genetics|August 8, 2009
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping resultsRuslan Dorfman, Weili Li, Lei Sun, et al.
American Journal of Respiratory and Critical Care Medicine|August 31, 2017
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease SeverityDeepika Polineni, Hong Dang, Paul J Gallins, et al.
American Journal of Human Genetics|September 3, 2021
Response to Biesecker et alAda Hamosh, Joanna S Amberger, Carol A Bocchini, et al.
JCI Insight|March 22, 2022
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftorKaren S Raraigh, Kathleen C Paul, Jennifer L Goralski, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanismsClaude Férec, Teresa Casals, Nadia Chuzhanova, et al.
Nature Communications|June 8, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disordersDadi Gao, Elisabetta Morini, Monica Salani, et al.
HGG Advances|February 7, 2022
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patientsQuan Sun, Weifang Liu, Jonathan D Rosen, et al.
American Journal of Human Genetics|December 20, 2003
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman, Timothy W Hefferon, Teresa Casals, et al.
Pageof 16

Showing results (141-150 of 158) with videos related to

Sort By:
Pageof 16
Nature Genetics|August 27, 2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator genePatrick R Sosnay, Karen R Siklosi, Fredrick Van Goor, et al.
Plos Genetics|February 27, 2019
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier lociJiafen Gong, Fan Wang, Bowei Xiao, et al.
Human Genetics|August 8, 2009
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping resultsRuslan Dorfman, Weili Li, Lei Sun, et al.
American Journal of Respiratory and Critical Care Medicine|August 31, 2017
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease SeverityDeepika Polineni, Hong Dang, Paul J Gallins, et al.
American Journal of Human Genetics|September 3, 2021
Response to Biesecker et alAda Hamosh, Joanna S Amberger, Carol A Bocchini, et al.
JCI Insight|March 22, 2022
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftorKaren S Raraigh, Kathleen C Paul, Jennifer L Goralski, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanismsClaude Férec, Teresa Casals, Nadia Chuzhanova, et al.
Nature Communications|June 8, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disordersDadi Gao, Elisabetta Morini, Monica Salani, et al.
HGG Advances|February 7, 2022
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patientsQuan Sun, Weifang Liu, Jonathan D Rosen, et al.
American Journal of Human Genetics|December 20, 2003
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman, Timothy W Hefferon, Teresa Casals, et al.
Pageof 16