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1 . Academic Journal
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
저자
by
Marshall, Christian
;
Meng, Linyan
;
Jobanputra, Vaidehi
;
Taft, Ryan
;
Ashley, Euan
, et al.
소스
In
Genetics in Medicine
December 2023 25(12)
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7 . 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
Monozygotic twins discordant for congenital adrenal hyperplasia due to mosaicism.
저자
by
Kluge, Michelle L.
;
Graber, Evan
;
Foley, Kathryn
;
Hansen, Lynnette V.
;
Sellers, Heidi L.
, et al.
소스
European Journal of Endocrinology
. Feb2020, Vol. 182 Issue 2, pK7-K13. 7p.
Full Text (OUP)
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7 . Periodical
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
저자
by
Rehm, Heidi L.
;
Alaimo, Joseph T.
;
Aradhya, Swaroop
;
Bayrak-Toydemir, Pinar
;
Best, Hunter
, et al.
소스
Genetics in Medicine; December 2023, Vol. 25 Issue: 12
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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 . Report
Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
저자
by
Raisingani, Manish
;
Contreras, Maria F.
;
Prasad, Kris
;
Pappas, John G.
;
Kluge, Michelle L.
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 29(7):867-871
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7 . Academic Journal
A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant
저자
by
Conboy, Erin
;
Partain, Paige I.
;
Warad, Deepti
;
Kluge, Michelle L.
;
Arndt, Carola
, et al.
소스
Journal of Pediatric Hematology/Oncology
. Jan 01, 2018 40(1):60-62
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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
Coagulation Disorders.
저자
by
Pruthi, Rajiv K.
;
Kluge, Michelle L.
;
Ashrani, Aneel A.
.
소스
Molecular Pathology in Clinical Practice (9783319196732); 2016, p203-223, 21p
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5 . Academic Journal
Hb Grand Junction ( HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant.
저자
by
Kent, Michael W.
;
Oliveira, Jennifer L.
;
Hoyer, James D.
;
Swanson, Kenneth C.
;
Kluge, Michelle L.
, et al.
소스
Hemoglobin
. Feb2014, Vol. 38 Issue 1, p8-12. 5p.
Web of Science
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