Pauline L. Lee

Holistic Medicine
4015 Governor Dr
San Diego, CA 92122

Last Updated: 09/26/2026

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Found 29 publications

Intravenous Bevacizumab Therapy in a Patient with Hereditary Hemorrhagic Telangiectasia, ENG E137K, Alcoholic Cirrhosis, and Portal Hypertension.

Intravenous Bevacizumab Therapy in a Patient with Hereditary Hemorrhagic Telangiectasia, ENG E137K, Alcoholic Cirrhosis, and Portal Hypertension.

Journal: Case reports in gastroenterology
Published: January 23, 2017

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

Journal: Physiological genomics
Published: August 05, 2016

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

Journal: PloS one
Published: March 25, 2015

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Journal: Investigative ophthalmology & visual science
Published: August 02, 2014

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.

Journal: Ophthalmic genetics
Published: July 10, 2014

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

Journal: Genomics
Published: March 06, 2013

Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.

Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.

Journal: Archives of ophthalmology (Chicago, Ill. : 1960)
Published: October 10, 2012

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

Journal: PloS one
Published: July 26, 2012

Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6.

Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6.

Journal: Blood cells, molecules & diseases
Published: December 09, 2011

Mild iron overload in an African American man with SLC40A1 D270V.

Mild iron overload in an African American man with SLC40A1 D270V.

Journal: Acta haematologica
Published: November 28, 2011

Common TMPRSS6 mutations and iron, erythrocyte, and pica phenotypes in 48 women with iron deficiency or depletion.

Common TMPRSS6 mutations and iron, erythrocyte, and pica phenotypes in 48 women with iron deficiency or depletion.

Journal: Blood cells, molecules & diseases
Published: November 28, 2011

Role of matriptase-2 (TMPRSS6) in iron metabolism.

Role of matriptase-2 (TMPRSS6) in iron metabolism.

Journal: Acta haematologica
Published: November 13, 2009
Showing 1-12 of 29

Last Updated: 09/26/2026