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1 . Academic Journal
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation
저자
by
Jean-Madeleine de Sainte Agathe
;
Mathilde Filser
;
Bertrand Isidor
;
Thomas Besnard
;
Paul Gueguen
, et al.
소스
Human Genomics, Vol 17, Iss 1, Pp 1-16 (2023)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Loss of function of ADNP by an intragenic inversion
저자
by
Mathieu Georget
;
Elodie Lejeune
;
Julien Buratti
;
Euphrasie Servant
;
Eric le Guern
, et al.
소스
European Journal of Human Genetics
.
Scopus
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7 .
Loss of function of ADNP by an intragenic inversion: towards an out-of frame start codon mechanism
저자
by
Mathieu Georget
;
Elodie Lejeune
;
Julien Buratti
;
Euphrasie Servant
;
Eric le Guern
, et al.
소스
Open Access (OpenAIRE)
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7 .
Caractérisation des formes autosomiques récessives de la maladie de Parkinson dans une large cohorte multi-centrique
저자
by
Thomas Courtin
;
Ahmed Bouhouche
;
Mouna Ben Djebara
;
Riadh Gouider
;
Olga Corti
, et al.
소스
Annals of Neurology
Annals of Neurology, Wiley, 2020, 88 (4), pp.843-850. ⟨10.1002/ana.25787⟩
Ann Neurol
Full Text (Wiley)
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Web of Science
Scopus
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7 .
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
저자
by
Marie Coutelier
;
Kristina Lidström
;
Malin Kvarnung
;
Rayomand Press
;
Rita Rodrigues
, et al.
소스
neurogenetics
neurogenetics, Springer Verlag, 2021, ⟨10.1007/s10048-020-00633-2⟩
Neurogenetics
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Scopus
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7 .
Intérêt d’un panel de gènes de paraparésies spastiques héréditaires
저자
by
Guillaume Banneau
;
Alexandra Durr
;
Eric Le Guern
;
Alexis Brice
;
Jean-Loup Méreaux
, et al.
소스
Revue Neurologique
. 177:S50-S51
Web of Science
Scopus
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7 .
Genetic and Phenotypic Characterisation of Autosomal Recessive Parkinson's Disease in a Large Multicentre Cohort
저자
by
François Tison
;
Ariane Lunati
;
Olga Corti
;
Kathy Larcher
;
Suzanne Lesage
, et al.
소스
SSRN Electronic Journal
.
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7 .
Novel VCP mutations expand the mutational spectrum of frontotemporal dementia
저자
by
Didier Hannequin
;
Agnès Camuzat
;
Yassaman Ghassab
;
Isabelle David
;
Sylvie Forlani
, et al.
소스
Neurobiology of Aging
Neurobiology of Aging, 2018, 72, pp.187.e11-187.e14. ⟨10.1016/j.neurobiolaging.2018.06.037⟩
Open Access (OpenAIRE)
Scopus
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7 .
Use of epilepsy gene panels for early diagnosis of epilepsy in children 2-4 years of age: expert considerations on current and future practices in Europe
저자
by
Stefan Griesbach
;
Lucy Jenkins
;
Eva Barroso
;
Filippo M. Santorelli
;
Holger Lerche
, et al.
소스
Publons
CIÊNCIAVITAE
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7 .
Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11–Xq21 microsatellites in a new large family: Three new markers are closely linked to the gene
저자
by
M. Gugenheim
;
Jean Weissenbach
;
Yves Agid
;
Alain Vignal
;
Pierre Bouche
, et al.
소스
Neuromuscular Disorders
. 4:463-469
Web of Science
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