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1 . Academic Journal
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
저자
by
Florent Marguet
;
Myriam Vezain
;
Pascale Marcorelles
;
Séverine Audebert-Bellanger
;
Kévin Cassinari
, et al.
소스
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-7 (2021)
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7 . Academic Journal
Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies
저자
by
Laetitia Miguel
;
Anne Rovelet-Lecrux
;
Pascal Chambon
;
Géraldine Joly-Helas
;
Stéphane Rousseau
, et al.
소스
Stem Cell Research, Vol 61, Iss , Pp 102762- (2022)
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7 . Academic Journal
Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma
저자
by
Maxime Fontanilles
;
Florent Marguet
;
Philippe Ruminy
;
Carole Basset
;
Adrien Noel
, et al.
소스
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-10 (2020)
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7 . Academic Journal
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
저자
by
Thomas Husson
;
François Lecoquierre
;
Kevin Cassinari
;
Camille Charbonnier
;
Olivier Quenez
, et al.
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Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
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7 . Academic Journal
Chromosomal Instability but Lack of Transformation in Human Myoblast Preparations
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by
Aurélie Bisson
;
Stéphanie Le Corre
;
Géraldine Joly-Helas
;
Pascal Chambon
;
Laetitia Demoulins
, et al.
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Cell Transplantation, Vol 23 (2014)
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7 .
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy‐like lymphedema: First prenatal case report
저자
by
Minh‐Tuan Huynh
;
Sophie Degre
;
Géraldine Joly‐Helas
;
Cathy Bréon
;
Stéphanie Potel
, et al.
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American Journal of Medical Genetics Part A
. 188:3550-3554
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7 . Academic Journal
Du Consulat à la seconde Restauration : l'exemple d'une société provinciale entre guerre et paix, le département de la Loire
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by
Pascal Chambon
.
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Annales historiques de la Révolution française 316(1):365-371
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3 .
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
저자
by
Alice Goldenberg
;
Gaël Nicolas
;
Maud Blanluet
;
Sandra Chantot-Bastaraud
;
Gabriella Vera
, et al.
소스
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩
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7 .
Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples
저자
by
Thierry Frebourg
;
Kévin Cassinari
;
Ségolène Gracias
;
Kevin Alexandre
;
Jean-Christophe Plantier
, et al.
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Clinical Chemistry
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7 .
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
저자
by
Anne-Claire Richard
;
Anne Rovelet-Lecrux
;
Dominique Campion
;
Sophie Coutant
;
Kilan Le Guennec
, et al.
소스
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
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