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Elaine B Spector

Showing results (11-20 of 19) with videos related to

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American Journal of Medical Genetics. Part A|October 15, 2021
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case reportShanshan Gao, Abigail Mumme-Monheit, Suet Nee Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2005
Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratoriesElaine B Spector, Wayne W Grody, Carla J Matteson, et al.
Human Molecular Genetics|January 2, 2017
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assemblyMarisa W Friederich, Alican J Erdogan, Curtis R Coughlin, et al.
The Journal of Pediatrics|January 11, 2016
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic HyperglycinemiaKendra J Bjoraker, Michael A Swanson, Curtis R Coughlin, et al.
Annals of Neurology|July 17, 2015
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemiaMichael A Swanson, Curtis R Coughlin, Gunter H Scharer, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Clinical Chemistry|September 17, 2005
Genetically characterized positive control cell lines derived from residual clinical blood samplesSusan H Bernacki, Jeanne C Beck, Ana K Stankovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohortGirish V Putcha, Bassem A Bejjani, Stacey Bleoo, et al.
Human Molecular Genetics|October 3, 2022
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiencyLaura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
American Journal of Medical Genetics. Part A|October 15, 2021
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case reportShanshan Gao, Abigail Mumme-Monheit, Suet Nee Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2005
Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratoriesElaine B Spector, Wayne W Grody, Carla J Matteson, et al.
Human Molecular Genetics|January 2, 2017
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assemblyMarisa W Friederich, Alican J Erdogan, Curtis R Coughlin, et al.
The Journal of Pediatrics|January 11, 2016
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic HyperglycinemiaKendra J Bjoraker, Michael A Swanson, Curtis R Coughlin, et al.
Annals of Neurology|July 17, 2015
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemiaMichael A Swanson, Curtis R Coughlin, Gunter H Scharer, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Clinical Chemistry|September 17, 2005
Genetically characterized positive control cell lines derived from residual clinical blood samplesSusan H Bernacki, Jeanne C Beck, Ana K Stankovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohortGirish V Putcha, Bassem A Bejjani, Stacey Bleoo, et al.
Human Molecular Genetics|October 3, 2022
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiencyLaura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, et al.
Pageof 2