Elaine B Spector

Elaine B Spector

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Elaine B Spector

Elaine B Spector

Publications by authors named "Elaine B Spector"

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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).

Genet Med 2018 12 5;20(12):1489-1498. Epub 2018 Oct 5.

Knight Diagnostic Laboratories, Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.

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http://www.nature.com/articles/s41436-018-0322-z
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http://dx.doi.org/10.1038/s41436-018-0322-zDOI Listing
December 2018

Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.

Pediatr Neurol 2018 02 28;79:e1. Epub 2017 Sep 28.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA.. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.014DOI Listing
February 2018

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

Am J Med Genet A 2017 Apr 9;173(4):1097-1101. Epub 2017 Feb 9.

Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38141DOI Listing
April 2017

Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.

JIMD Rep 2013 4;11:149-63. Epub 2013 Jun 4.

Division of Hematology, Department of Medicine, University of Colorado School of Medicine, 12700 E. 19th Avenue, Room 9122, Bldg. RC2, Campus, B170, Aurora, CO, USA,

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http://dx.doi.org/10.1007/8904_2013_235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755560PMC
August 2013

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.

J Child Neurol 2010 Aug 18;25(8):954-60. Epub 2009 Dec 18.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1177/0883073809351984DOI Listing
August 2010

Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.

Genet Med 2008 Jan;10(1):57-72

Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31815f6eacDOI Listing
January 2008

Familial acanthosis nigricans due to K650T FGFR3 mutation.

Arch Dermatol 2007 Sep;143(9):1153-6

Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid, Campus Box 8123, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1001/archderm.143.9.1153DOI Listing
September 2007

Technical standards and guidelines for Huntington disease testing.

Genet Med 2004 Jan-Feb;6(1):61-5

Molecular Subcommittee of the Laboratory Quality Assurance Committee, Huntington Disease Molecular Working Group, and Laboratory Quality Assurance Committee, Bethesda, Maryland, USA.

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http://dx.doi.org/10.109701.GIM.0000106165.74751.15DOI Listing
July 2004