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Laurie D Smith

Showing results (11-20 of 28) with videos related to

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American Journal of Medical Genetics. Part A|July 28, 2017
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndromeNatario L Couser, Daniel S Marchuk, Laurie D Smith, et al.
Genomics|May 2, 2013
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genomeDarrell L Dinwiddie, Laurie D Smith, Neil A Miller, et al.
JIMD Reports|February 12, 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of AgeChristina Lampe, Andrea Atherton, Barbara K Burton, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
NPJ Genomic Medicine|December 22, 2017
Clinical detection of deletion structural variants in whole-genome sequencesAaron C Noll, Neil A Miller, Laurie D Smith, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndromeSilke Schlaubitz, Svetlana A Yatsenko, Laurie D Smith, et al.
NPJ Genomic Medicine|February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infantsJosh 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 diseasesNeil A Miller, Emily G Farrow, Margaret Gibson, et al.
The Lancet. Respiratory Medicine|May 5, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findingsLaurel K Willig, Josh E Petrikin, Laurie D Smith, et al.
Science Translational Medicine|December 5, 2014
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disordersSarah E Soden, Carol J Saunders, Laurel K Willig, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|July 28, 2017
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndromeNatario L Couser, Daniel S Marchuk, Laurie D Smith, et al.
Genomics|May 2, 2013
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genomeDarrell L Dinwiddie, Laurie D Smith, Neil A Miller, et al.
JIMD Reports|February 12, 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of AgeChristina Lampe, Andrea Atherton, Barbara K Burton, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
NPJ Genomic Medicine|December 22, 2017
Clinical detection of deletion structural variants in whole-genome sequencesAaron C Noll, Neil A Miller, Laurie D Smith, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndromeSilke Schlaubitz, Svetlana A Yatsenko, Laurie D Smith, et al.
NPJ Genomic Medicine|February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infantsJosh 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 diseasesNeil A Miller, Emily G Farrow, Margaret Gibson, et al.
The Lancet. Respiratory Medicine|May 5, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findingsLaurel K Willig, Josh E Petrikin, Laurie D Smith, et al.
Science Translational Medicine|December 5, 2014
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disordersSarah E Soden, Carol J Saunders, Laurel K Willig, et al.
Pageof 3