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1 . Academic Journal
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia
저자
by
Vanhoye, Xavier
;
Bardel, Claire
;
Rimbert, Antoine
;
Moulin, Philippe
;
Rollat-Farnier, Pierre-Antoine
, et al.
소스
In
Translational Research
May 2023 255:119-127
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7 . Academic Journal
PCSK9 post-transcriptional regulation: Role of a 3′UTR microRNA-binding site variant in linkage disequilibrium with c.1420G
저자
by
Decourt, Charlotte
;
Janin, Alexandre
;
Moindrot, Marine
;
Chatron, Nicolas
;
Nony, Séverine
, et al.
소스
In
Atherosclerosis
December 2020 314:63-70
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7 . Academic Journal
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
저자
by
Campion, Dominique
;
Dartigues, Jean-Francois
;
Deleuze, Jean-François
;
Genin, Emmanuelle
;
Lambert, Jean-Charles
, et al.
소스
In
The Lancet Rheumatology
February 2020 2(2):e99-e109
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7 . Academic Journal
Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi ® Long-Read and Illumina Short-Read Sequencing.
저자
by
Barthélémy, David
;
Belmonte, Elodie
;
Pilla, Laurie Di
;
Bardel, Claire
;
Duport, Eve
, et al.
소스
Journal of Personalized Medicine
. Dec2023, Vol. 13 Issue 12, p1655. 19p.
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7 . Academic Journal
The XmnI Gγ polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L- MYB SNPs in a cohort of 57 β-thalassemia intermedia patients
저자
by
Nguyen, Thi Khanh Tien
;
Joly, Philippe
;
Bardel, Claire
;
Moulsma, Mustapha
;
Bonello-Palot, Nathalie
, et al.
소스
In
Blood Cells, Molecules and Diseases
2010 45(2):124-127
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7 . Academic Journal
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
저자
by
Masson, Julie
;
Pebrel‐Richard, Céline
;
Egloff, Matthieu
;
Frétigny, Mathilde
;
Beaumont, Marion
, et al.
소스
Clinical Genetics
. Apr2023, Vol. 103 Issue 4, p401-412. 12p.
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7 . Academic Journal
Performance comparisons between clustering models for reconstructing NGS results from technical replicates.
저자
by
Yue Zhai
;
Bardel, Claire
;
Vallée, Maxime
;
Iwaz, Jean
;
Roy, Pascal
.
소스
Frontiers in Genetics; 3/16/2023, Vol. 14, p1-9, 9p
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7 . Academic Journal
Paired Comparison of Routine Molecular Screening of Patient Samples with Advanced Non-Small Cell Lung Cancer in Circulating Cell-Free DNA Using Three Targeted Assays.
저자
by
Barthelemy, David
;
Lescuyer, Gaelle
;
Geiguer, Florence
;
Grolleau, Emmanuel
;
Gauthier, Arnaud
, et al.
소스
Cancers
. Mar2023, Vol. 15 Issue 5, p1574. 12p.
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7 . Academic Journal
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
저자
by
Jourdy, Yohann
;
Bardel, Claire
;
Fretigny, Mathilde
;
Diguet, Flavie
;
Rollat‐Farnier, Pierre‐Antoine
, et al.
소스
Haemophilia
. Jan2022, Vol. 28 Issue 1, p117-124. 8p. 4 Diagrams.
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7 . Academic Journal
In Vivo Characterization of the Toxicological Properties of DPhP, One of the Main Degradation Products of Aryl Phosphate Esters.
저자
by
Selmi-Ruby, Samia
;
Marín-Sáez, Jesús
;
Fildier, Aurélie
;
Buleté, Audrey
;
Abdallah, Myriam
, et al.
소스
Environmental Health Perspectives
(ENVIRON HEALTH PERSPECT), Dec2020; 128(12): 127006-1-127006-18. (18p)
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