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Laurie D Smith

Showing results (1-10 of 28) with videos related to

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International Ophthalmology Clinics|October 9, 2010
Ophthalmologic manifestations of systemic diseaseMerrill Stass-Isern, Laurie D Smith
Cold Spring Harbor Perspectives in Medicine|December 20, 2015
Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene DisordersLaurie D Smith, Laurel K Willig, Stephen F Kingsmore
Biochimica Et Biophysica Acta|October 23, 2013
The role of sterol-C4-methyl oxidase in epidermal biologyMiao He, Laurie D Smith, Richard Chang, et al.
International Journal of Neonatal Screening|May 1, 2020
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and ChallengesLaurie D Smith, Matthew N Bainbridge, Richard B Parad, et al.
Methods in Molecular Biology (Clifton, N.J.)|January 16, 2010
Determination of benzoic acid in serum or plasma by gas chromatography-mass spectrometry (GC/MS)Jeff M Knoblauch, David K Scott, Laurie D Smith, et al.
Seminars in Perinatology|November 2, 2015
Rapid whole genome sequencing and precision neonatologyJoshua E Petrikin, Laurel K Willig, Laurie D Smith, et al.
Pediatric Blood & Cancer|March 4, 2015
An ethical framework for responding to drug shortages in pediatric oncologyJill C Beck, Laurie D Smith, Bruce G Gordon, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrumMarkus Buelow, David Süßmuth, Laurie D Smith, et al.
BMC Medical Genomics|September 19, 2013
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomaliesDarrell L Dinwiddie, Sarah E Soden, Carol J Saunders, et al.
Journal of Inherited Metabolic Disease|August 25, 2011
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenaseJörn Oliver Sass, Melanie Walter, Julian P H Shield, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
International Ophthalmology Clinics|October 9, 2010
Ophthalmologic manifestations of systemic diseaseMerrill Stass-Isern, Laurie D Smith
Cold Spring Harbor Perspectives in Medicine|December 20, 2015
Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene DisordersLaurie D Smith, Laurel K Willig, Stephen F Kingsmore
Biochimica Et Biophysica Acta|October 23, 2013
The role of sterol-C4-methyl oxidase in epidermal biologyMiao He, Laurie D Smith, Richard Chang, et al.
International Journal of Neonatal Screening|May 1, 2020
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and ChallengesLaurie D Smith, Matthew N Bainbridge, Richard B Parad, et al.
Methods in Molecular Biology (Clifton, N.J.)|January 16, 2010
Determination of benzoic acid in serum or plasma by gas chromatography-mass spectrometry (GC/MS)Jeff M Knoblauch, David K Scott, Laurie D Smith, et al.
Seminars in Perinatology|November 2, 2015
Rapid whole genome sequencing and precision neonatologyJoshua E Petrikin, Laurel K Willig, Laurie D Smith, et al.
Pediatric Blood & Cancer|March 4, 2015
An ethical framework for responding to drug shortages in pediatric oncologyJill C Beck, Laurie D Smith, Bruce G Gordon, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrumMarkus Buelow, David Süßmuth, Laurie D Smith, et al.
BMC Medical Genomics|September 19, 2013
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomaliesDarrell L Dinwiddie, Sarah E Soden, Carol J Saunders, et al.
Journal of Inherited Metabolic Disease|August 25, 2011
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenaseJörn Oliver Sass, Melanie Walter, Julian P H Shield, et al.
Pageof 3