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1 . Academic Journal
Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study
저자
by
Wang, Liewei
;
Scherer, Steven E.
;
Bielinski, Suzette J.
;
Muzny, Donna M.
;
Jones, Leila A.
, et al.
소스
In
Genetics in Medicine
May 2022 24(5):1062-1072
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7 . Academic Journal
Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots.
저자
by
Baudhuin, Linnea M.
;
Leduc, Charles
;
Train, Laura J.
;
Avula, Rajeswari
;
Kluge, Michelle L.
, et al.
소스
Circulation: Cardiovascular Genetics; Dec2017, Vol. 10 Issue 6, p1-9, 9p
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7 . Academic Journal
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar
저자
by
Baudhuin, Linnea M.
;
Kluge, Michelle L.
;
Kotzer, Katrina E.
;
Lagerstedt, Susan A.
.
소스
European Journal of Human Genetics
. 27(10):1550-1560
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6 . Book
Human Genetic Disorders.
저자
by
Volk, Amber K.
;
Mitchell, Elyse B.
;
Thomas, Brittany C.
;
Runke, Cassandra K.
;
Essendrup, Anna A.
, et al.
소스
Essentials of Anatomic Pathology (9783319233796); 2016, p595-663, 69p
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7 . Academic Journal
Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis
저자
by
Donato, Leslie J.
;
Saenger, Amy K.
;
Train, Laura J.
;
Kotzer, Katrina E.
;
Lagerstedt, Susan A.
, et al.
소스
Journal of Clinical Apheresis
. Oct 01, 2014 29(5):256-265
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7 . Periodical
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events
저자
by
Baudhuin, Linnea M.
;
Kotzer, Katrina E.
;
Lagerstedt, Susan A.
.
소스
Genetics in Medicine; March 2015, Vol. 17 Issue: 3 p177-187, 11p
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5 . Academic Journal
UGT1A1 Genetic Analysis as a Diagnostic Aid for Individuals with Unconjugated Hyperbilirubinemia.
저자
by
Skierka, Jennifer M.
;
Kotzer, Katrina E.
;
Lagerstedt, Susan A.
;
O'Kane, Dennis J.
;
Baudhuin, Linnea M.
.
소스
Journal of Pediatrics; Jun2013, Vol. 162 Issue 6, p1146-1152, 7p
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7 . Academic Journal
Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory
저자
by
Moyer, Ann M.
;
Skierka, Jennifer M.
;
Kotzer, Katrina E.
;
Kluge, Michelle L.
;
Black, John L.
, et al.
소스
Molecular Diagnosis & Therapy
. June 2017 21(3):327-335
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7 . Academic Journal
The Genetic Counselor’s Role in Managing Ethical Dilemmas Arising in the Laboratory Setting
저자
by
Balcom, Jessica R.
;
Kotzer, Katrina E.
;
Waltman, Lindsey A.
;
Kemppainen, Jennifer L.
;
Thomas, Brittany C.
.
소스
Journal of Genetic Counseling
. October 2016 25(5):838-854
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7 . Periodical
Targeted Genotyping in Clinical Pharmacogenomics: What is Missing?
저자
by
Lopes, Jaime L.
;
Harris, Kimberley
;
Karow, Mary Beth
;
Peterson, Sandra E.
;
Kluge, Michelle L.
, et al.
소스
The Journal of Molecular Diagnostics; 20220101, Issue: Preprints
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