Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Beecroft, Sarah J.
44  Ergebnisse:
Personensuche X
?
1

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/..
 
?
2

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..
 
?
3

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/..
 
?
4

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/..
 
?
5

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/..
 
?
6

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/..
 
?
7

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/..
 
?
8

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/..
 
?
9

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/..
 
?
10

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/..
 
?
11

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/..
 
?
12

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/..
 
?
13

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/..
 
?
14

Expanding the phenotypic spectrum associated with mutations..:

Beecroft, Sarah J. ; McLean, Catriona A. ; Delatycki, Martin B....
Neuromuscular Disorders.  27 (2017)  7 - p. 607-615 , 2017
Link: https://doi.org/10.1016/..
 
?
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