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Lukas Lange
Lukas Lange
DPhil Student, Oxford University, Wellcome Trust Centre for Human Genetics
在 well.ox.ac.uk 的电子邮件经过验证
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Rechargeability of Li–air cathodes pre-filled with discharge products using an ether-based electrolyte solution: implications for cycle-life of Li–air cells
S Meini, N Tsiouvaras, KU Schwenke, M Piana, H Beyer, L Lange, ...
Physical Chemistry Chemical Physics 15 (27), 11478-11493, 2013
2392013
A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia
L Lange, AT Pagnamenta, S Lise, S Clasper, H Stewart, ES Akha, ...
Clinical genetics 90 (3), 258-262, 2016
472016
Classical and non-classical presentations of complement factor I deficiency: two contrasting cases diagnosed via genetic and genomic methods
AM Shields, AT Pagnamenta, AJ Pollard, OxClinWGS, JC Taylor, ...
Frontiers in immunology 10, 1150, 2019
242019
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
AT Pagnamenta, C Camps, E Giacopuzzi, JM Taylor, M Hashim, ...
Genome medicine 15 (1), 94, 2023
182023
Analysis and functional validation of candidate variants arising from human whole genome sequencing
L Lange
University of Oxford, 2022
2022
Pink pearly nodular papules and plaques: A malignancy more ominous than basal cell carcinoma
L Lange, A Quinn, L Collins
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 81 (4), AB256-AB256, 2019
2019
Clinical usefulness of genotype-driven and genotype-and-phenotype-driven variant prioritization algorithms (GAs and GPAs) for whole genome sequencing (WGS) analysis
L Lange, AT Pagnamenta, N Popitsch, JC Taylor
EUROPEAN JOURNAL OF HUMAN GENETICS 26, 994-994, 2018
2018
Mutation in HNRNPK causes a Kabuki-like syndrome with nodular heterotopia
H Stewart, PYB Au, AM Innes, J Breckpot, S Clasper, K Devriendt, ...
Abstract book, 283-283, 2016
2016
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