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Clause, Amanda R.
30  Ergebnisse:
Personensuche X
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1

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration wi..:

Chacaltana‐Vinas, Cesar ; Ramirez‐Pajares, Patricia ; Manrique‐Palomino, Alid...
Movement Disorders Clinical Practice.  11 (2024)  6 - p. 746-748 , 2024
Link: https://doi.org/10.1002/..
 
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2

Reactive gene curation to support interpretation and report..:

Clause, Amanda R. ; Taylor, Julie P. ; Rajkumar, Revathi...
Cell Genomics.  3 (2023)  2 - p. 100258 , 2023
Link: https://doi.org/10.1016/..
 
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3

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brot..:

Mori, Mari ; Clause, Amanda R. ; Truxal, Kristen...
JPGN Reports.  3 (2022)  4 - p. e258 , 2022
Link: https://doi.org/10.1097/..
 
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4

Clinical validity assessment of genes frequently tested on ..:

Riggs, Erin Rooney ; Bingaman, Taylor I. ; Barry, Carrie-Ann...
Genetics in Medicine.  24 (2022)  9 - p. 1899-1908 , 2022
Link: https://doi.org/10.1016/..
 
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5

Clinical whole genome sequencing as a first-tier test at a ..:

Scocchia, Alicia ; Wigby, Kristen M. ; Masser-Frye, Diane...
npj Genomic Medicine.  4 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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6

A Corticothalamic Circuit for Dynamic Switching between Fea..:

Guo, Wei ; Clause, Amanda R. ; Barth-Maron, Asa.
Neuron.  95 (2017)  1 - p. 180-194.e5 , 2017
Link: https://doi.org/10.1016/..
 
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7

Differential maturation of vesicular glutamate and GABA tra..:

Hackett, Troy A. ; Clause, Amanda R. ; Takahata, Toru..
Brain Structure and Function.  221 (2015)  5 - p. 2619-2673 , 2015
Link: https://doi.org/10.1007/..
 
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8

Expert Panel Curation of 113 Primary Mitochondrial Disease ..:

McCormick, Elizabeth M ; Keller, Kierstin ; Taylor, Julie P...
https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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9

Clinical validity assessment of genes frequently tested on ..:

Riggs, Erin Rooney ; Bingaman, Taylor I ; Barry, Carrie-Ann...
https://api.elsevier.com/content/article/PII:S1098360022007560?httpAccept=text/xml.  , 2022
Link: https://orbi.uliege.be/h..
 
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10

A case series of challenging molecular diagnoses identified..:

Schlachetzki, Zinayida ; Chandrasekhar, Anjana ; Clause, Amanda...
Molecular Genetics and Metabolism.  132 (2021)  - p. S182 , 2021
Link: https://doi.org/10.1016/..
 
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11

Contributors:

, In: Development of Auditory and Vestibular Systems,
Alexander, Erika E. ; Altieri, Stefanie C. ; Avraham, Karen B.... - p. xi-xiii , 2014
Link: https://doi.org/10.1016/..
 
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12

Sensorineural Deafness and Seizures in Mice Lacking Vesicul..:

Seal, Rebecca P. ; Akil, Omar ; Yi, Eunyoung...
Neuron.  57 (2008)  2 - p. 263-275 , 2008
Link: https://doi.org/10.1016/..
 
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13

Reactive gene curation to support interpretation and report..:

Amanda R. Clause ; Julie P. Taylor ; Revathi Rajkumar...
http://www.sciencedirect.com/science/article/pii/S2666979X23000149.  , 2023
Link: https://doi.org/10.1016/..
 
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14

Implications of Acute Left Ventricular Remodeling during Sq..:

Chandraratna, P. Anthony N. ; Mohar, Dilbahar S. ; Sidarous, Peter F....
Echocardiography.  29 (2012)  6 - p. 700-705 , 2012
Link: https://doi.org/10.1111/..
 
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15

Mice Lacking the Alpha9 Subunit of the Nicotinic Acetylchol..:

Clause, Amanda ; Lauer, Amanda M. ; Kandler Kandler, Karl
Frontiers in Cellular Neuroscience.  11 (2017)  - p. , 2017
Link: https://doi.org/10.3389/..
 
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