Suchergebnisse - (Subject:"Clinical Laboratory Techniques")

PubPharm (4)

1

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data : findings from CanVIG-UK national molecular laboratory survey

enthalten in: Journal of medical genetics | 2024

von Allen, S. | Loong, L. | Garrett, A. | +34

2

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

enthalten in: Journal of medical genetics | 2023

von Riquin, K. | Isidor, B. | Mercier, S. | +14

3

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

enthalten in: Journal of medical genetics | 2022

von Thomas, Q. | Vitobello, A. | Tran Mau-Them, F. | +20

4

Blood functional assay for rapid clinical interpretation of germline TP53 variants

enthalten in: Journal of medical genetics | 2021

von Raad, S. | Rolain, M. | Coutant, S. | +14

1
[1]