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1 . Academic Journal
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
저자
by
Balak, Chris
;
Benard, Marianne
;
Schaefer, Elise
;
Iqbal, Sumaiya
;
Ramsey, Keri
, et al.
소스
In
The American Journal of Human Genetics
5 September 2019 105(3):509-525
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
The AnnotSV webserver in 2023: updated visualization and ranking.
저자
by
Geoffroy, Véronique
;
Lamouche, Jean-Baptiste
;
Guignard, Thomas
;
Nicaise, Samuel
;
Kress, Arnaud
, et al.
소스
Nucleic Acids Research; 7/5/2023, Vol. 51 Issue W1, pW39-W45, 7p
Open Access (OUP)
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7 . Academic Journal
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
저자
by
Karam, Adella
;
Delvallée, Clarisse
;
Estrada-Cuzcano, Alejandro
;
Geoffroy, Véronique
;
Lamouche, Jean-Baptiste
, et al.
소스
International Journal of Molecular Sciences
. May2023, Vol. 24 Issue 10, p8729. 15p.
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7 . Academic Journal
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
저자
by
El Chehadeh, Salima
;
Legrand, Anne
;
Stoetzel, Corinne
;
Geoffroy, Véronique
;
Billon, Clarisse
, et al.
소스
Clinical Genetics
. Aug2021, Vol. 100 Issue 2, p206-212. 7p.
Scopus
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7 . Academic Journal
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.
저자
by
Geoffroy, Véronique
;
Guignard, Thomas
;
Kress, Arnaud
;
Gaillard, Jean-Baptiste
;
Solli-Nowlan, Tor
, et al.
소스
Nucleic Acids Research; 7/2/2021, Vol. 49 Issue W1, pW21-W28, 8p
Open Access (OUP)
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7 . Academic Journal
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.
저자
by
Delvallée, Clarisse
;
Nicaise, Samuel
;
Antin, Manuela
;
Leuvrey, Anne‐Sophie
;
Nourisson, Elsa
, et al.
소스
Clinical Genetics
. Feb2021, Vol. 99 Issue 2, p318-324. 7p.
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7 . Academic Journal
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
저자
by
Kröll‐Hermi, Ariane
;
Ebstein, Frédéric
;
Stoetzel, Corinne
;
Geoffroy, Véronique
;
Schaefer, Elise
, et al.
소스
EMBO Molecular Medicine; 7/7/2020, Vol. 12 Issue 7, p1-20, 20p
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7 . Academic Journal
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
저자
by
Estrada‐Cuzcano, Alejandro
;
Etard, Christelle
;
Delvallée, Clarisse
;
Stoetzel, Corinne
;
Schaefer, Elise
, et al.
소스
Human Mutation; Jan2020, Vol. 41 Issue 1, p240-254, 15p
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7 . Academic Journal
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
저자
by
Scheidecker, Sophie
;
Bär, Séverine
;
Stoetzel, Corinne
;
Geoffroy, Véronique
;
Lannes, Béatrice
, et al.
소스
Human Mutation; Oct2019, Vol. 40 Issue 10, p1826-1840, 15p
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7 . Academic Journal
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
저자
by
Laugel-Haushalter, Virginie
;
Bär, Séverine
;
Schaefer, Elise
;
Stoetzel, Corinne
;
Geoffroy, Véronique
, et al.
소스
Frontiers in Genetics; 5/28/2019, pN.PAG-N.PAG, 8p
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