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/vufind/Search/Results?lookfor=%22Delvall%C3%A9e%2C+Clarisse%22&type=Person&sort=year
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PubPharm (11)
1
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
enthalten in:
Journal of neurology
| 2024
von
Wirth, T.
|
Bonnet, C.
|
Delvallée, C.
| +14
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2
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Wirth, T.
|
Roze, E.
|
Delvallée, C.
| +17
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3
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
enthalten in:
Journal of neurology
| 2024
von
Wirth, T.
|
Bonnet, C.
|
Delvallée, C.
| +14
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4
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2023
von
Wirth, T.
|
Clément, G.
|
Delvallée, C.
| +17
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5
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
enthalten in:
International journal of molecular sciences
| 2023
von
Karam, A.
|
Delvallée, C.
|
Estrada-Cuzcano, A.
| +16
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6
Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies
enthalten in:
Cold Spring Harbor perspectives in medicine
| 2023
von
Delvallée, C.
|
Dollfus, H.
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7
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
enthalten in:
Clinical genetics
| 2021
von
Delvallée, C.
|
Nicaise, S.
|
Antin, M.
| +24
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8
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome
enthalten in:
Clinical Genetics
| 2021
von
Delvallée, C.
|
Nicaise, S.
|
Antin, M.
| +24
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9
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
enthalten in:
Human mutation
| 2020
von
Estrada-Cuzcano, A.
|
Etard, C.
|
Delvallée, C.
| +15
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10
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
enthalten in:
Human mutation
| 2020
von
Estrada‐Cuzcano, A.
|
Etard, C.
|
Delvallée, C.
| +15
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1
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Zeitschriftentitel
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Human mutation
2
Journal of neurology
2
Movement disorders : official journal of the Mo...
1
Clinical Genetics
1
Clinical genetics
1
Cold Spring Harbor perspectives in medicine
1
Frontiers in genetics
1
International journal of molecular sciences
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Thema
8
Journal Article
3
SCA27B
2
Bardet-Biedl syndrome
2
Cerebellar ataxia
2
Cytoskeletal Proteins
2
FGF14
2
Genetic diagnosis
2
Multiple system atrophy
2
Research Support, Non-U.S. Gov't
2
genetics
1
Adaptor Proteins, Signal Transducing
1
BBS1
1
BBS19
1
BBS5 gene
1
BBS5 protein, human
1
BBS7 protein, mouse
1
Bardet–Biedl syndrome
1
Bbs1 protein, human
1
Case Reports
1
EC 3.2.1.20
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