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Piero Rinaldo

Showing results (41-50 of 100) with videos related to

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International Journal of Neonatal Screening|October 19, 2020
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin MetabolismDimitar K Gavrilov, Amy L Piazza, Gisele Pino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2007
Committee Report: advancing the current recommended panel of conditions for newborn screeningNancy S Green, Piero Rinaldo, Amy Brower, et al.
Hepatology (Baltimore, Md.)|December 17, 2008
Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and functionColleen M Brophy, Jennifer L Luebke-Wheeler, Bruce P Amiot, et al.
Molecular Genetics and Metabolism|February 9, 2010
Homogentisic acid interference in routine urine creatinine determinationPerry R Loken, Mark J Magera, Wendy Introne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2005
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notificationRegina Ensenauer, Jennifer L Winters, Patricia A Parton, et al.
Molecular Genetics and Metabolism|February 2, 2006
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type IMark J Magera, Nishantha D Gunawardena, Si Houn Hahn, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduriaRamanath Majumdar, Andrew Yori, Peggy W Rush, et al.
The Journal of Molecular Diagnostics : JMD|August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn ScreeningNoemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.
Molecular Genetics and Metabolism|May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencingEmily H Smith, Cheryl Thomas, David McHugh, et al.
Hepatology (Baltimore, Md.)|March 26, 2005
Abnormal concentrations of esterified carnitine in bile: a feature of pediatric acute liver failure with poor prognosisBenjamin L Shneider, Piero Rinaldo, Sukru Emre, et al.
Pageof 10

Showing results (41-50 of 100) with videos related to

Sort By:
Pageof 10
International Journal of Neonatal Screening|October 19, 2020
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin MetabolismDimitar K Gavrilov, Amy L Piazza, Gisele Pino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2007
Committee Report: advancing the current recommended panel of conditions for newborn screeningNancy S Green, Piero Rinaldo, Amy Brower, et al.
Hepatology (Baltimore, Md.)|December 17, 2008
Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and functionColleen M Brophy, Jennifer L Luebke-Wheeler, Bruce P Amiot, et al.
Molecular Genetics and Metabolism|February 9, 2010
Homogentisic acid interference in routine urine creatinine determinationPerry R Loken, Mark J Magera, Wendy Introne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2005
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notificationRegina Ensenauer, Jennifer L Winters, Patricia A Parton, et al.
Molecular Genetics and Metabolism|February 2, 2006
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type IMark J Magera, Nishantha D Gunawardena, Si Houn Hahn, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduriaRamanath Majumdar, Andrew Yori, Peggy W Rush, et al.
The Journal of Molecular Diagnostics : JMD|August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn ScreeningNoemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.
Molecular Genetics and Metabolism|May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencingEmily H Smith, Cheryl Thomas, David McHugh, et al.
Hepatology (Baltimore, Md.)|March 26, 2005
Abnormal concentrations of esterified carnitine in bile: a feature of pediatric acute liver failure with poor prognosisBenjamin L Shneider, Piero Rinaldo, Sukru Emre, et al.
Pageof 10