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Beecroft, Sarah
45
results:
Search for persons
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Format
Online (45)
Mediatypes
E-Books (4)
Articles (Online) (18)
OpenAccess-fulltext (23)
Languages
english (40)
german (1)
Sorted by: Relevance
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1
Hecatomb: an integrated software platform for viral metagen..:
Roach, Michael J
;
Beecroft, Sarah J
;
Mihindukulasuriya, Kathie A
...
GigaScience. 13 (2024) - p. , 2024
Link:
https://doi.org/10.1093/..
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2
Role of the repeat expansion size in predicting age of onse..:
Currò, Riccardo
;
Dominik, Natalia
;
Facchini, Stefano
...
Brain. 147 (2024) 5 - p. 1887-1898 , 2024
Link:
https://doi.org/10.1093/..
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3
Koverage: Read-coverage analysis for massive(meta)genomics ..:
Roach, Michael J.
;
Hart, Bradley J.
;
Beecroft, Sarah J.
...
Journal of Open Source Software. 9 (2024) 94 - p. 6235 , 2024
Link:
https://doi.org/10.21105..
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4
Introme accurately predicts the impact of coding and noncod..:
Sullivan, Patricia J.
;
Gayevskiy, Velimir
;
Davis, Ryan L.
...
Genome Biology. 24 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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5
Loss of function variants in DNAJB4 cause a myopathy with e..:
Weihl, Conrad C.
;
Töpf, Ana
;
Bengoechea, Rocio
...
Acta Neuropathologica. 145 (2022) 1 - p. 127-143 , 2022
Link:
https://doi.org/10.1007/..
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6
STRling: a k-mer counting approach that detects short tande..:
Dashnow, Harriet
;
Pedersen, Brent S.
;
Hiatt, Laurel
...
Genome Biology. 23 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
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7
Biallelic hypomorphic variants in ALDH1A2 cause a novel let..:
Beecroft, Sarah J.
;
Ayala, Marcos
;
McGillivray, George
...
Human Mutation. 42 (2021) 5 - p. 506-519 , 2021
Link:
https://doi.org/10.1002/..
?
8
A Māori specific RFC1 pathogenic repeat configuration in CA..:
Beecroft, Sarah J
;
Cortese, Andrea
;
Sullivan, Roisin
...
Brain. 143 (2020) 9 - p. 2673-2680 , 2020
Link:
https://doi.org/10.1093/..
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9
Cylindrical spirals in two families: Clinical and genetic i..:
Beecroft, Sarah J
;
Olive, Montse
;
Quereda, Lidia Gonzalez
...
Neuromuscular Disorders. 30 (2020) 2 - p. 151-158 , 2020
Link:
https://doi.org/10.1016/..
?
10
Cerebellar ataxia, neuropathy, vestibular areflexia syndrom..:
Cortese, Andrea
;
Tozza, Stefano
;
Yau, Wai Yan
...
Brain. 143 (2020) 2 - p. 480-490 , 2020
Link:
https://doi.org/10.1093/..
?
11
Targeted gene panel use in 2249 neuromuscular patients: the..:
Beecroft, Sarah J.
;
Yau, Kyle S.
;
Allcock, Richard J. N.
...
Annals of Clinical and Translational Neurology. 7 (2020) 3 - p. 353-362 , 2020
Link:
https://doi.org/10.1002/..
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12
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVA..:
Scriba, Carolin K
;
Beecroft, Sarah J
;
Clayton, Joshua S
...
Brain. 143 (2020) 10 - p. 2904-2910 , 2020
Link:
https://doi.org/10.1093/..
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13
The Impact of Next-Generation Sequencing on the Diagnosis, ..:
Beecroft, Sarah J.
;
Lamont, Phillipa J.
;
Edwards, Samantha
...
Molecular Diagnosis & Therapy. 24 (2020) 6 - p. 641-652 , 2020
Link:
https://doi.org/10.1007/..
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14
Recessive MYH7-related myopathy in two families:
Beecroft, Sarah J.
;
van de Locht, Martijn
;
de Winter, Josine M.
...
Neuromuscular Disorders. 29 (2019) 6 - p. 456-467 , 2019
Link:
https://doi.org/10.1016/..
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15
Lethal multiple pterygium syndrome: A severe phenotype asso..:
Abdalla, Ebtesam
;
Ravenscroft, Gianina
;
Zayed, Louay
..
Neuromuscular Disorders. 27 (2017) 6 - p. 537-541 , 2017
Link:
https://doi.org/10.1016/..
1-15