Natalie S Hauser

Natalie S Hauser

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Natalie S Hauser

Natalie S Hauser

Publications by authors named "Natalie S Hauser"

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15Publications

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Pitfalls of clinical exome and gene panel testing: alternative transcripts.

Genet Med 2019 05 8;21(5):1240-1245. Epub 2018 Oct 8.

Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA.

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http://www.nature.com/articles/s41436-018-0319-7
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http://dx.doi.org/10.1038/s41436-018-0319-7DOI Listing
May 2019

A case study of atypical Larsen syndrome with absent hallmark joint dislocations.

Mol Genet Genomic Med 2019 05 27;7(5):e648. Epub 2019 Mar 27.

Inova Translational Medicine Institute, Inova Fairfax Hospital, Virginia.

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http://dx.doi.org/10.1002/mgg3.648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503063PMC
May 2019

Mutation in an alternative transcript of in a boy with early-onset seizures.

Cold Spring Harb Mol Case Stud 2018 06 1;4(3). Epub 2018 Jun 1.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1101/mcs.a002360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983171PMC
June 2018

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1101/mcs.a002055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701300PMC
November 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Am J Med Genet A 2015 Sep 10;167A(9):2075-84. Epub 2015 May 10.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37127DOI Listing
September 2015

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

Am J Clin Nutr 2011 Jan 3;93(1):47-56. Epub 2010 Nov 3.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA.

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https://academic.oup.com/ajcn/article/93/1/47/4597678
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http://dx.doi.org/10.3945/ajcn.110.004341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001598PMC
January 2011