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NPJ Genomic Medicine
|
December 22, 2017
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, <i>CYP2D6</i>, from whole-genome sequences
Greyson P Twist, Andrea Gaedigk, Neil A Miller, et al.
NPJ Genomic Medicine
|
December 22, 2017
Clinical detection of deletion structural variants in whole-genome sequences
Aaron C Noll, Neil A Miller, Laurie D Smith, et al.
NPJ Genomic Medicine
|
December 22, 2017
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, <i>CYP2D6</i>, from whole-genome sequences
Greyson P Twist, Andrea Gaedigk, Neil A Miller, et al.
The Journal of Allergy and Clinical Immunology
|
February 5, 2013
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections
Darrell L Dinwiddie, Stephen F Kingsmore, Sonia Caracciolo, et al.
Science Translational Medicine
|
January 14, 2011
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Callum J Bell, Darrell L Dinwiddie, Neil A Miller, et al.
Blood
|
March 31, 2012
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
Raffaele Badolato, Alberto Prandini, Sonia Caracciolo, et al.
The Journal of Molecular Diagnostics : JMD
|
February 8, 2022
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project
Andrea Gaedigk, Erin C Boone, Steven E Scherer, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 28, 2008
Transcriptome sequencing of malignant pleural mesothelioma tumors
David J Sugarbaker, William G Richards, Gavin J Gordon, et al.
NPJ Genomic Medicine
|
February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A Cakici, Michelle M Clark, et al.
Genome Medicine
|
October 1, 2015
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Neil A Miller, Emily G Farrow, Margaret Gibson, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 43) with videos related to
Sort By:
Page
of 5
NPJ Genomic Medicine
|
December 22, 2017
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, <i>CYP2D6</i>, from whole-genome sequences
Greyson P Twist, Andrea Gaedigk, Neil A Miller, et al.
NPJ Genomic Medicine
|
December 22, 2017
Clinical detection of deletion structural variants in whole-genome sequences
Aaron C Noll, Neil A Miller, Laurie D Smith, et al.
NPJ Genomic Medicine
|
December 22, 2017
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, <i>CYP2D6</i>, from whole-genome sequences
Greyson P Twist, Andrea Gaedigk, Neil A Miller, et al.
The Journal of Allergy and Clinical Immunology
|
February 5, 2013
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections
Darrell L Dinwiddie, Stephen F Kingsmore, Sonia Caracciolo, et al.
Science Translational Medicine
|
January 14, 2011
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Callum J Bell, Darrell L Dinwiddie, Neil A Miller, et al.
Blood
|
March 31, 2012
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
Raffaele Badolato, Alberto Prandini, Sonia Caracciolo, et al.
The Journal of Molecular Diagnostics : JMD
|
February 8, 2022
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project
Andrea Gaedigk, Erin C Boone, Steven E Scherer, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 28, 2008
Transcriptome sequencing of malignant pleural mesothelioma tumors
David J Sugarbaker, William G Richards, Gavin J Gordon, et al.
NPJ Genomic Medicine
|
February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A Cakici, Michelle M Clark, et al.
Genome Medicine
|
October 1, 2015
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Neil A Miller, Emily G Farrow, Margaret Gibson, et al.
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of 5