Suchergebnisse - "Bardel, Claire"

PubPharm (92)

1

Transposable element expression with variation in sex chromosome number supports a toxic Y effect on human longevity

enthalten in: bioRxiv.org | 2024

von Teoli, J. | Merenciano, M. | Fablet, M. | +12

2

Place of concordance-discordance model in evaluating NGS performance

enthalten in: Human heredity | 2024

von Zhai, Y. | Bardel, C. | Vallée, M. | +2

3

Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi® Long-Read and Illumina Short-Read Sequencing

enthalten in: Journal of personalized medicine | 2023

von Barthélémy, D. | Belmonte, E. | Pilla, L. | +4

4

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

enthalten in: Translational research : the journal of laboratory and clinical medicine | 2023

von Vanhoye, X. | Bardel, C. | Rimbert, A. | +16

5

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

enthalten in: Clinical genetics | 2023

von Masson, J. | Pebrel-Richard, C. | Egloff, M. | +18

6

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

enthalten in: Cancers | 2023

von Barthelemy, D. | Lescuyer, G. | Geiguer, F. | +10

7

Performance comparisons between clustering models for reconstructing NGS results from technical replicates

enthalten in: Frontiers in genetics | 2023

von Zhai, Y. | Bardel, C. | Vallée, M. | +2

8

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A

enthalten in: Haemophilia : the official journal of the World Federation of Hemophilia | 2022

von Jourdy, Y. | Bardel, C. | Fretigny, M. | +8

9

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A

enthalten in: Haemophilia | 2022

von Jourdy, Y. | Bardel, C. | Fretigny, M. | +8

10

Impact of interleukin-6 on drug transporters and permeability in the hCMEC/D3 blood-brain barrier model

enthalten in: Fundamental & clinical pharmacology | 2021

von Simon, F. | Guyot, L. | Garcia, J. | +5

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