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Christine C. Bruels
23
results:
Search for persons
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Format
Online (23)
Mediatypes
Articles (Online) (16)
OpenAccess-fulltext (7)
Sorted by: Relevance
Sorted by: Year
?
1
Cognitive Decline and Other Late-Stage Neurologic Complicat..:
Rajamani, Geetanjali
;
Stafki, Seth A.
;
Daugherty, Audrey L.
...
Neurology Clinical Practice. 14 (2024) 4 - p. , 2024
Link:
https://doi.org/10.1212/..
?
2
Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopa..:
Turner, Johnnie
;
Bruels, Christine C.
;
Daugherty, Audrey L.
...
Muscle & Nerve. , 2024
Link:
https://doi.org/10.1002/..
?
3
Variants in DTNA cause a mild, dominantly inherited muscula..:
Nascimento, Andres
;
Bruels, Christine C.
;
Donkervoort, Sandra
...
Acta Neuropathologica. 145 (2023) 4 - p. 479-496 , 2023
Link:
https://doi.org/10.1007/..
?
4
Bi-allelic variants in HMGCR cause an autosomal-recessive p..:
Morales-Rosado, Joel A.
;
Schwab, Tanya L.
;
Macklin-Mantia, Sarah K.
...
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023
Link:
https://doi.org/10.1016/..
?
5
The Spectrum of MORC2-Related Disorders: A Potential Link t..:
Stafki, Seth A.
;
Turner, Johnnie
;
Littel, Hannah R.
...
Pediatric Neurology. 141 (2023) - p. 79-86 , 2023
Link:
https://doi.org/10.1016/..
?
6
Diagnostic capabilities of nanopore long‐read sequencing in..:
Bruels, Christine C.
;
Littel, Hannah R.
;
Daugherty, Audrey L.
...
Annals of Clinical and Translational Neurology. 9 (2022) 8 - p. 1302-1309 , 2022
Link:
https://doi.org/10.1002/..
?
7
Evidence of historical isolation and genetic structuring am..:
Schmidt-Roach, Alicia C. J.
;
Bruels, Christine C.
;
Barnett, Adam
...
Reviews in Fish Biology and Fisheries. 31 (2021) 2 - p. 433-447 , 2021
Link:
https://doi.org/10.1007/..
?
8
POLRMT mutations impair mitochondrial transcription causing..:
Oláhová, Monika
;
Peter, Bradley
;
Szilagyi, Zsolt
...
Nature Communications. 12 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
9
Restricted connectivity and population genetic fragility in..:
Pinhal, Danillo
;
Domingues, Rodrigo R.
;
Bruels, Christine C.
...
Reviews in Fish Biology and Fisheries. 30 (2020) 3 - p. 501-517 , 2020
Link:
https://doi.org/10.1007/..
?
10
Identification of a pathogenic mutation in ATP2A1 via in si..:
Bruels, Christine C.
;
Li, Chengcheng
;
Mendoza, Tonatiuh
...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019
Link:
https://doi.org/10.1002/..
?
11
Cover:
Bruels, Christine C.
;
Li, Chengcheng
;
Mendoza, Tonatiuh
...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019
Link:
https://doi.org/10.1002/..
?
12
Genetic connectivity and phylogeography of the night shark ..:
Domingues, Rodrigo R.
;
Bruels, Christine C.
;
Gadig, Otto B.F.
...
Aquatic Conservation: Marine and Freshwater Ecosystems. 29 (2018) 1 - p. 102-114 , 2018
Link:
https://doi.org/10.1002/..
?
13
Consequences of MEGF10 deficiency on myoblast function and ..:
Saha, Madhurima
;
Mitsuhashi, Satomi
;
Jones, Michael D.
...
Human Molecular Genetics. 26 (2017) 15 - p. 2984-3000 , 2017
Link:
https://doi.org/10.1093/..
?
14
The Spectrum of MORC2-Related Disorders:A Potential Link to..:
Stafki, Seth A
;
Turner, Johnnie
;
Littel, Hannah R
...
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69. , 2023
Link:
https://pure.eur.nl/en/p..
?
15
The spectrum of MORC2-related disorders: a potential link t..:
Seth A Stafki
;
Johnnie Turner
;
Hannah R Littel
...
10779/uos.25416199.v1. , 2023
Link:
https://figshare.com/art..
1-15