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41 . Periodical
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
저자
by
Koeks, Zaïda
;
Bladen, Catherine L.
;
Salgado, David
;
van Zwet, Erik
;
Pogoryelova, Oksana
, et al.
소스
Journal of Neuromuscular Diseases; November 2017, Vol. 4 Issue: 4 p293-306, 14p
Web of Science
Scopus
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47 . Academic Journal
Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation
저자
by
Stefanovic, Sonia
;
Laforest, Brigitte
;
Desvignes, Jean-Pierre
;
Lescroart, Fabienne
;
Argiro, Laurent
, et al.
소스
ELIFE
; AUG 17 2020, 9 pe55124 32p.
Scopus
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47 . Academic Journal
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution
저자
by
Salgado, David
;
Desvignes, Jean-Pierre
;
Rai, Ghadi
;
Blanchard, Arnaud
;
Miltgen, Morgane
, et al.
소스
Human Mutation
. May 01, 2016 37(5):439-446
Web of Science
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47 . Academic Journal
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing
저자
by
Sevy, Amandine
;
Cerino, Mathieu
;
Gorokhova, Svetlana
;
Dionnet, Eugénie
;
Mathieu, Yves
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. Mar 01, 2016 87(3):340-342
Full Text (BMJ Journals)
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47 . Academic Journal
Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton.
저자
by
LACOSTE, CAROLINE
;
DESVIGNES, JEAN-PIERRE
;
SALGADO, DAVID
;
PECHEUX, CHRISTOPHE
;
VILLARD, LAURENT
, et al.
소스
Journal of Genetics
. Mar2016, Vol. 95 Issue 1, p203-208. 6p.
Web of Science
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47 . Academic Journal
Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.
저자
by
Gorokhova, Svetlana
;
Cerino, Mathieu
;
Mathieu, Yves
;
Courrier, Sébastien
;
Desvignes, Jean-Pierre
, et al.
소스
Applied & Translational Genomics; Dec2015, Vol. 7, p26-31, 6p
Full Text (ScienceDirect)
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47 . Periodical
OISO, traitement informatisé de la prise en charge en oncogénétique clinique
저자
by
Guien, Céline
;
Fabre, Aurélie
;
Lagarde, Arnaud
;
Salgado, David
;
Gensollen-Thiriez, Catherine
, et al.
소스
Bulletin du Cancer; July-August 2017, Vol. 104 Issue: 7-8 p602-607, 6p
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47 . Academic Journal
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
저자
by
Bladen, Catherine L.
;
Salgado, David
;
Monges, Soledad
;
Foncuberta, Maria E.
;
Kekou, Kyriaki
, et al.
소스
Human Mutation
. Apr 01, 2015 36(4):395-402
Web of Science
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47 . Academic Journal
Genomic variations integrated database for MUTYH-associated adenomatous polyposis
저자
by
Grandval, Philippe
;
Fabre, Aurélie J
;
Gaildrat, Pascaline
;
Baert-Desurmont, Stéphanie
;
Blayau, Martine
, et al.
소스
Journal of Medical Genetics
. Jan 01, 2015 52(1):25-27
Full Text (BMJ Journals)
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47 . Academic Journal
Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene
저자
by
Kergourlay, Virginie
;
Raï, Ghadi
;
Blandin, Gaëlle
;
Salgado, David
;
Béroud, Christophe
, et al.
소스
Human Mutation
. Dec 01, 2014 35(12):1532-1541
Web of Science
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