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Elaine B Spector

Showing results (1-10 of 19) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2013
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and GenomicsKristin G Monaghan, Elaine Lyon, Elaine B Spector, et al.
Archives of Dermatology|September 19, 2007
Familial acanthosis nigricans due to K650T FGFR3 mutationDavid R Berk, Elaine B Spector, Susan J Bayliss
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2004
Technical standards and guidelines for Huntington disease testingNicholas T Potter, Elaine B Spector, Thomas W Prior
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2008
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelinesKathryn E Kronquist, Stephanie L Sherman, Elaine B Spector
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2008
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish populationKristin G Monaghan, Gerald L Feldman, Glenn E Palomaki, et al.
Pediatric Neurology|December 15, 2017
Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC GeneCurtis R Coughlin, Michael A Swanson, Elaine B Spector, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Shulin Zhang, Annette K Taylor, Xuan Huang, et al.
American Journal of Medical Genetics. Part A|February 10, 2017
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutationNatario L Couser, Chetna K Pande, Christie M Turcott, et al.
Journal of Child Neurology|December 22, 2009
Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiencyLaura M Pollard, Nolan R Williams, Lesby Espinoza, et al.
JIMD Reports|June 5, 2013
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a familySally P Stabler, Mark Korson, Reena Jethva, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

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Pageof 2
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2013
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and GenomicsKristin G Monaghan, Elaine Lyon, Elaine B Spector, et al.
Archives of Dermatology|September 19, 2007
Familial acanthosis nigricans due to K650T FGFR3 mutationDavid R Berk, Elaine B Spector, Susan J Bayliss
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2004
Technical standards and guidelines for Huntington disease testingNicholas T Potter, Elaine B Spector, Thomas W Prior
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2008
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelinesKathryn E Kronquist, Stephanie L Sherman, Elaine B Spector
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2008
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish populationKristin G Monaghan, Gerald L Feldman, Glenn E Palomaki, et al.
Pediatric Neurology|December 15, 2017
Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC GeneCurtis R Coughlin, Michael A Swanson, Elaine B Spector, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Shulin Zhang, Annette K Taylor, Xuan Huang, et al.
American Journal of Medical Genetics. Part A|February 10, 2017
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutationNatario L Couser, Chetna K Pande, Christie M Turcott, et al.
Journal of Child Neurology|December 22, 2009
Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiencyLaura M Pollard, Nolan R Williams, Lesby Espinoza, et al.
JIMD Reports|June 5, 2013
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a familySally P Stabler, Mark Korson, Reena Jethva, et al.
Pageof 2