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/vufind/Search/Results?lookfor=%22Beijer%2C+Danique%22&type=Person&sort=year
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PubPharm (37)
1
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Dohrn, M.
|
Bademci, G.
|
Rebelo, A.
| +110
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2
Standards of NGS Data Sharing and Analysis in Ataxias : Recommendations by the NGS Working Group of the Ataxia Global Initiative
enthalten in:
Cerebellum (London, England)
| 2024
von
Beijer, D.
|
Fogel, B.
|
Beltran, S.
| +35
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3
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Dohrn, M.
|
Beijer, D.
|
Lone, M.
| +17
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4
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases
enthalten in:
Brain communications
| 2024
von
Beijer, D.
|
Marte, S.
|
Li, J.
| +14
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5
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
enthalten in:
Annals of Clinical and Translational Neurology
| 2024
von
Dohrn, M.
|
Bademci, G.
|
Rebelo, A.
| +9
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6
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
enthalten in:
Brain : a journal of neurology
| 2023
von
Lischka, A.
|
Eggermann, K.
|
Record, C.
| +79
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7
Deep structured learning realizes variant prioritization for Mendelian diseases
enthalten in:
ResearchSquare.com
| 2023
von
Danzi, M.
|
Dohrn, M.
|
Fazal, S.
| +4
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8
Deep structured learning for variant prioritization in Mendelian diseases
enthalten in:
Nature communications
| 2023
von
Danzi, M.
|
Dohrn, M.
|
Fazal, S.
| +4
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9
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
enthalten in:
The Cerebellum
| 2023
von
Beijer, D.
|
Fogel, B.
|
Beltran, S.
| +4
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10
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy
enthalten in:
European journal of neurology
| 2023
von
Cipriani, S.
|
Guerrero-Valero, M.
|
Tozza, S.
| +21
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37
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Zeitschriftentitel
5
Brain : a journal of neurology
4
Neurological research and practice
3
European journal of human genetics : EJHG
2
European Journal of Neurology
2
European journal of neurology
2
Journal of neuromuscular diseases
1
American journal of human genetics
1
Annals of Clinical and Translational Neurology
1
Annals of clinical and translational neurology
1
Brain communications
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Cerebellum (London, England)
1
Frontiers in molecular neuroscience
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Genetics in medicine : official journal of the ...
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JCI insight
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Journal of neurology, neurosurgery, and psychiatry
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Life science alliance
1
Molecular cell
1
Movement Disorders
1
Movement disorders : official journal of the Mo...
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Nature communications
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Thema
22
Journal Article
16
Research Support, Non-U.S. Gov't
7
Research Support, N.I.H., Extramural
4
Case Reports
4
Letter
4
next-generation sequencing
3
Comment
2
12634-43-4
2
26656-46-2
2
ADPRS protein, human
2
Autosomal dominant
2
Axonal neuropathy
2
Carrier Proteins
2
Cerebellar ataxia
2
Charcot-Marie-Tooth disease
2
Charcot-Marie-Tooth neuropathy
2
Codon, Nonsense
2
Consensus
2
EC 3.2.1.-
2
EC 3.2.1.143
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Erscheinungszeitraum
34
2020-
3
2010-2019
Erscheinungsjahr(e)
Von:
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Sprache
33
Englisch
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