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1 . Academic Journal
Multiplex genotyping by melting analysis of loci-spanning probes: β-globin as an example
저자
by
Genevieve Pont-Kingdon
;
Lan-Szu Chou
;
Kristy Damjanovich
;
Kelli Sumner
;
Mark Herrmann
, et al.
소스
BioTechniques, Vol 42, Iss 2, Pp 193-197 (2007)
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7 . Academic Journal
Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.
저자
by
Issa Siryani
;
Mohamed Jama
;
Nisreen Rumman
;
Hiyam Marzouqa
;
Moein Kannan
, et al.
소스
PLoS ONE, Vol 10, Iss 7, p e0133890 (2015)
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7 . Academic Journal
Unlabeled oligonucleotide probes modified with locked nucleic acids for improved mismatch discrimination in genotyping by melting analysis
저자
by
Lan-Szu Chou
;
Cindy Meadows
;
Carl T. Wittwer
;
Elaine Lyon
.
소스
BioTechniques, Vol 39, Iss 5, Pp 644-650 (2005)
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6 . Academic Journal
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.
저자
by
David K Crockett
;
Stephen R Piccolo
;
Perry G Ridge
;
Rebecca L Margraf
;
Elaine Lyon
, et al.
소스
PLoS ONE, Vol 6, Iss 3, p e18380 (2011)
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7 .
An Educational Assessment of Evidence Used for Variant Classification
저자
by
Elaine Lyon
;
Robyn L. Temple-Smolkin
;
Madhuri Hegde
;
Julie M. Gastier-Foster
;
Glenn E. Palomaki
, et al.
소스
The Journal of Molecular Diagnostics
. 24:555-565
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7 .
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
저자
by
Marwan K. Tayeh
;
Andrea Gaedigk
;
Matthew P. Goetz
;
Teri E. Klein
;
Elaine Lyon
, et al.
소스
Genetics in Medicine
. 24:759-768
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7 .
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
저자
by
Steven M. Harrison
;
Debra Lochner Doyle
;
Elaine Lyon
;
Kandamurugu Manickam
;
Kristin G. Monaghan
, et al.
소스
Genetics in Medicine
. 23:989-995
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7 .
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework
저자
by
Ozlem Senol-Cosar
;
Marzia Pasquali
;
Meredith A. Weaver
;
Wei Shen
;
Justyne Ross
, et al.
소스
Molecular Genetics and Metabolism
. 128:122-128
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7 .
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy
저자
by
Hunter H Giles
;
Megan E Garlapow
;
Julie M. Eggington
;
Elaine Lyon
;
Iain D. Kerr
, et al.
소스
Annual review of genomics and human genetics
. 22
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7 .
Recommended measures for the efficient care of patients with genetic disorders during the COVID-19 pandemic in low and middle income countries
저자
by
Elaine Lyon
;
Khalil Kreidieh
;
Ghunwa Nakouzi
;
Lina Hamad
;
Soha Yazbek
.
소스
American Journal of Medical Genetics Part A
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