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Bruels, C.
29  results:
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1

P285 Bi-allelic variants in HMGCR cause limb girdle muscula..:

Foley, A. ; Donkervoort, S. ; Bharucha-Goebel, D....
Neuromuscular Disorders.  33 (2023)  - p. S114 , 2023
Link: https://doi.org/10.1016/..
 
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2

FP.36 Genetic variants in DTNA cause a mild dominantly inhe..:

Nascimento, A. ; Bruels, C. ; Codina, A....
Neuromuscular Disorders.  32 (2022)  - p. S113 , 2022
Link: https://doi.org/10.1016/..
 
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3

NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES:

Puusepp, S. ; Reimand, T. ; Pajusalu, S....
Neuromuscular Disorders.  30 (2020)  - p. S143-S144 , 2020
Link: https://doi.org/10.1016/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

Cover:

Bruels, Christine C. ; Li, Chengcheng ; Mendoza, Tonatiuh...
Molecular Genetics & Genomic Medicine.  7 (2019)  3 - p. , 2019
Link: https://doi.org/10.1002/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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