Alexandra M Falsey

Alexandra M Falsey

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Alexandra M Falsey

Alexandra M Falsey

Publications by authors named "Alexandra M Falsey"

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Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Am J Med Genet A 2016 Mar 24;170(3):750-3. Epub 2015 Dec 24.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37512DOI Listing
March 2016

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.

Am J Med Genet A 2016 Feb 13;170A(2):471-475. Epub 2015 Oct 13.

Department of Pathology and Laboratory Medicine, the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37429DOI Listing
February 2016

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.

Am J Med Genet A 2015 Apr 3;167A(4):891-3. Epub 2015 Mar 3.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36946DOI Listing
April 2015