E-LIB Suche - Ergebnisse für: Bahlo, Melanie

1

Short tandem repeat expansions inLRP12are absent in cohorts..:

Henden, Lyndal ; Fearnley, Liam G. ; Southwood, Dean...
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 25 (2024) 5-6 - p. 644-647 , 2024

Link: https://doi.org/10.1080/..

2

UKB.COVID19: an R package for UK Biobank COVID-19 data proc..:

Wang, Longfei ; Jackson, Victoria E ; Fearnley, Liam G.
F1000Research. 10 (2024) - p. 830 , 2024

Link: https://doi.org/10.12688..

3

Haemoglobin thresholds to define anaemia from age 6 months ..:

Braat, Sabine ; Fielding, Katherine L ; Han, Jiru...
The Lancet Haematology. 11 (2024) 4 - p. e253-e264 , 2024

Link: https://doi.org/10.1016/..

4

Decreased Circulating Very Small Low-Density Lipoprotein is..:

Farashi, Samaneh ; Bonelli, Roberto ; Jackson, Victoria E....
Ophthalmology Science. 4 (2024) 5 - p. 100535 , 2024

Link: https://doi.org/10.1016/..

5

Inflation of polygenic risk scores caused by sample overlap..:

Ellis, Colin A. ; Oliver, Karen L. ; Harris, Rebekah V....
The American Journal of Human Genetics. 111 (2024) 9 - p. 1805-1809 , 2024

Link: https://doi.org/10.1016/..

6

Leveraging multiple approaches for the detection of pathoge..:

Nyaga, Denis M. ; Hildebrand, Michael S. ; de Valles‐Ibáñez, Guillem...
Epilepsia Open. 9 (2024) 2 - p. 758-764 , 2024

Link: https://doi.org/10.1002/..

7

A multi-exon RFC1 deletion in a case of CANVAS: expanding t..:

Davies, Kayli C. ; Fearnley, Liam G. ; Snell, Penny...
Journal of Neurology. , 2024

Link: https://doi.org/10.1007/..

8

Clinical, Radiological and Pathological Features of a Large..:

Abou Chaar, Widad ; Eranki, Anirudh N. ; Stevens, Hannah A....
Annals of Neurology. , 2024

Link: https://doi.org/10.1002/..

9

Loss of symmetric cell division of apical neural progenitor..:

Banks, Emily ; Francis, Vincent ; Lin, Sheng-Jia...
Nature Communications. 15 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

10

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology. 11 (2024) 5 - p. 1250-1266 , 2024

Link: https://doi.org/10.1002/..

11

Exploring THAP11 Repeat Expansion beyond Chinese‐Ancestry C..:

Fearnley, Liam G. ; Rafehi, Haloom ; Bennett, Mark F..
Movement Disorders. 38 (2023) 12 - p. 2320-2322 , 2023

Link: https://doi.org/10.1002/..

12

iPSC–derived retinal pigmented epithelial cells from patien..:

Eade, Kevin T. ; Ansell, Brendan Robert E. ; Giles, Sarah...
Journal of Clinical Investigation. 133 (2023) 9 - p. , 2023

Link: https://doi.org/10.1172/..

13

Genes4Epilepsy: An epilepsy gene resource:

Oliver, Karen L. ; Scheffer, Ingrid E. ; Bennett, Mark F....
Epilepsia. 64 (2023) 5 - p. 1368-1375 , 2023

Link: https://doi.org/10.1111/..

14

WWOX developmental and epileptic encephalopathy: Understand..:

Oliver, Karen L. ; Trivisano, Marina ; Mandelstam, Simone A....
Epilepsia. 64 (2023) 5 - p. 1351-1367 , 2023

Link: https://doi.org/10.1111/..

15

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum a..:

Harris, Rebekah V. ; Oliver, Karen L. ; Perucca, Piero...
Annals of Neurology. 94 (2023) 5 - p. 825-835 , 2023

Link: https://doi.org/10.1002/..