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Elissa Murphy

Showing results (1-10 of 18) with videos related to

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Molecular Genetics & Genomic Medicine|February 29, 2020
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1Leora Witkowski, Mitchell W Dillon, Elissa Murphy, et al.
Clinical Chemistry|April 6, 2023
Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome LocusLaura M Sack, Lauren Mertens, Elissa Murphy, et al.
The Journal of Molecular Diagnostics : JMD|July 3, 2020
A Role for Chromosomal Microarray Testing in the Workup of Male InfertilityKelsey J McIntyre, Elissa Murphy, Lauren Mertens, et al.
Clinical Chemistry|January 18, 2018
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using StereocilinSami S Amr, Elissa Murphy, Elizabeth Duffy, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 4, 2008
Mycobacterium tuberculosis Rv2224c modulates innate immune responsesJyothi Rengarajan, Elissa Murphy, Arnold Park, et al.
Chest|May 12, 2012
The pulmonary fibrosis-associated MUC5B promoter polymorphism does not influence the development of interstitial pneumonia in systemic sclerosisAnna L Peljto, Mark P Steele, Tasha E Fingerlin, et al.
Pediatric Pulmonology|April 11, 2015
MUC5B expression and location in surfactant protein C mutations in childrenDeborah R Liptzin, Alan M Watson, Elissa Murphy, et al.
Chest|October 3, 2014
The MUC5B promoter polymorphism is associated with idiopathic pulmonary fibrosis in a Mexican cohort but is rare among Asian ancestriesAnna L Peljto, Moises Selman, Dong Soon Kim, et al.
Human Mutation|January 25, 2021
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsSacha Laurent, Corinne Gehrig, Thierry Nouspikel, et al.
BMC Genomics|October 28, 2015
Relationship between gene expression and lung function in Idiopathic Interstitial PneumoniasMark P Steele, Leah G Luna, Christopher D Coldren, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Molecular Genetics & Genomic Medicine|February 29, 2020
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1Leora Witkowski, Mitchell W Dillon, Elissa Murphy, et al.
Clinical Chemistry|April 6, 2023
Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome LocusLaura M Sack, Lauren Mertens, Elissa Murphy, et al.
The Journal of Molecular Diagnostics : JMD|July 3, 2020
A Role for Chromosomal Microarray Testing in the Workup of Male InfertilityKelsey J McIntyre, Elissa Murphy, Lauren Mertens, et al.
Clinical Chemistry|January 18, 2018
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using StereocilinSami S Amr, Elissa Murphy, Elizabeth Duffy, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 4, 2008
Mycobacterium tuberculosis Rv2224c modulates innate immune responsesJyothi Rengarajan, Elissa Murphy, Arnold Park, et al.
Chest|May 12, 2012
The pulmonary fibrosis-associated MUC5B promoter polymorphism does not influence the development of interstitial pneumonia in systemic sclerosisAnna L Peljto, Mark P Steele, Tasha E Fingerlin, et al.
Pediatric Pulmonology|April 11, 2015
MUC5B expression and location in surfactant protein C mutations in childrenDeborah R Liptzin, Alan M Watson, Elissa Murphy, et al.
Chest|October 3, 2014
The MUC5B promoter polymorphism is associated with idiopathic pulmonary fibrosis in a Mexican cohort but is rare among Asian ancestriesAnna L Peljto, Moises Selman, Dong Soon Kim, et al.
Human Mutation|January 25, 2021
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsSacha Laurent, Corinne Gehrig, Thierry Nouspikel, et al.
BMC Genomics|October 28, 2015
Relationship between gene expression and lung function in Idiopathic Interstitial PneumoniasMark P Steele, Leah G Luna, Christopher D Coldren, et al.
Pageof 2