Publications by authors named "Linda M Randolph"

21Publications

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608433PMC
March 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk.

Clin Chem 2018 03;64(3):611-613

Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA.

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http://dx.doi.org/10.1373/clinchem.2017.277954DOI Listing
March 2018

Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA.

Prenat Diagn 2017 03 9;37(3):296-298. Epub 2017 Feb 9.

Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Southern California/Keck School of Medicine, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/pd.4992DOI Listing
March 2017

Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.

Fetal Diagn Ther 2017 17;41(3):234-236. Epub 2016 Mar 17.

Division of Cardiology, Children's Hospital Los Angeles, Los Angeles, Calif., USA.

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https://www.karger.com/Article/FullText/444852
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http://dx.doi.org/10.1159/000444852DOI Listing
February 2018

The childless man.

Am J Med Genet A 2014 Feb 5;164A(2):561. Epub 2013 Dec 5.

Tesserae Genetics, Dallas, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36290DOI Listing
February 2014

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.

J Inherit Metab Dis 2014 Mar 10;37(2):277-87. Epub 2013 Oct 10.

Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA, USA,

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http://dx.doi.org/10.1007/s10545-013-9654-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976509PMC
March 2014

Prevalence of noncardiac structural anomalies in twin-twin transfusion syndrome.

J Ultrasound Med 2012 Apr;31(4):555-60

Department of Obstetrics and Gynecology, University of Southern California, Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.7863/jum.2012.31.4.555DOI Listing
April 2012

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.

Mol Genet Metab 2011 Feb 30;102(2):149-52. Epub 2010 Oct 30.

Division of Medical Genetics, Children's Hospital Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.014DOI Listing
February 2011

Discordant blood chimerism in dizygotic monochorionic laser-treated twin-twin transfusion syndrome.

Obstet Gynecol 2010 Aug;116 Suppl 2:483-5

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

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http://dx.doi.org/10.1097/AOG.0b013e3181e4bec7DOI Listing
August 2010

Hypoplastic left heart syndrome in patients with Kabuki syndrome.

Pediatr Cardiol 2010 Jan 5;31(1):138-41. Epub 2009 Dec 5.

Division of Cardiology, USC Keck School of Medicine, Children's Hospital Los Angeles, 4650 Sunset Boulevard, MS #34, Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1007/s00246-009-9554-7DOI Listing
January 2010

L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease.

Pediatr Surg Int 2009 Sep 30;25(9):823-5. Epub 2009 Jul 30.

Department of Pediatric Surgery, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, 4650 Sunset Boulevard, Mailstop #72, Los Angeles, CA 90027, USA.

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http://dx.doi.org/10.1007/s00383-009-2420-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734257PMC
September 2009