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Wiltrout, Kimberly
11
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Online (11)
Mediatypes
Articles (Online) (10)
OpenAccess-fulltext (1)
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1
P249: Gaps in the phenotype descriptions of ultra-rare gene..:
AlMail, Ali
;
Jamjoom, Ahmed
;
Pan, Amy
...
Genetics in Medicine Open. 2 (2024) - p. 101145 , 2024
Link:
https://doi.org/10.1016/..
?
2
The spectrum of movement disorders in young children with A..:
Akula, Shyam K.
;
Quiroz, Vicente
;
D'Gama, Alissa M.
...
Annals of Clinical and Translational Neurology. 11 (2024) 6 - p. 1643-1647 , 2024
Link:
https://doi.org/10.1002/..
?
3
Comprehensive phenotypes of patients with SYNGAP1‐related d..:
Wiltrout, Kimberly
;
Brimble, Elise
;
Poduri, Annapurna
Epilepsia. 65 (2024) 5 - p. 1428-1438 , 2024
Link:
https://doi.org/10.1111/..
?
4
Novel bi-allelic CAD variants cause epileptic encephalopath..:
Anderson, Katherine
;
Wiltrout, Kimberly
;
Giummo, Christine
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108204 , 2024
Link:
https://doi.org/10.1016/..
?
5
P305: Evaluation of the feasibility, diagnostic yield, and ..:
Yan Liang, Nicole Si
;
Costain, Gregory
;
D'Gama, Alissa
...
Genetics in Medicine Open. 2 (2024) - p. 101201 , 2024
Link:
https://doi.org/10.1016/..
?
6
P208: Insights into diagnostic yield and novel genetic etio..:
Lai, Abbe
;
Neil, Jennifer
;
Rodan, Lance
...
Genetics in Medicine Open. 2 (2024) - p. 101105 , 2024
Link:
https://doi.org/10.1016/..
?
7
Consensus reporting guidelines to address gaps in descripti..:
AlMail, Ali
;
Jamjoom, Ahmed
;
Pan, Amy
...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
8
A MILDER PHENOTYPE OF ASPARAGINE SYNTHETASE DEFICIENCY AND ..:
Lee, Angela
;
Slaugh, Rachel
;
Toolan, Elizabeth
...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 282-283 , 2022
Link:
https://doi.org/10.1016/..
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9
Variants in DOCK3 cause developmental delay and hypotonia:
Wiltrout, Kimberly
;
Ferrer, Alejandro
;
van de Laar, Ingrid
...
European Journal of Human Genetics. 27 (2019) 8 - p. 1225-1234 , 2019
Link:
https://doi.org/10.1038/..
?
10
Evaluation of the feasibility, diagnostic yield, and clinic..:
D'Gama, Alissa M
;
Mulhern, Sarah
;
Sheidley, Beth R
...
The Lancet Neurology. 22 (2023) 9 - p. 812-825 , 2023
Link:
https://doi.org/10.1016/..
?
11
Evaluation of the feasibility, diagnostic yield, and clinic..:
D'Gama, Alissa M
;
Mulhern, Sarah
;
Sheidley, Beth R
...
https://discovery.ucl.ac.uk/id/eprint/10175582/1/McTague_Evaluation%20of%20the%20feasibility,%20diagnostic%20yield,%20and%20clinical%20utility%20of%20rapid%20genome%20sequencing%20in%20infantile%20epilepsy_VoR.pdf. , 2023
Link:
https://discovery.ucl.ac..
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