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1 . Academic Journal
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context
저자
by
Jean-Loup Méreaux
;
Claire-Sophie Davoine
;
David Pellerin
;
Giulia Coarelli
;
Marie Coutelier
, et al.
소스
EBioMedicine, Vol 99, Iss , Pp 104931- (2024)
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7 . Academic Journal
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
저자
by
Céline Bonnet
;
David Pellerin
;
Virginie Roth
;
Guillemette Clément
;
Marion Wandzel
, et al.
소스
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study
저자
by
Jean-Marie Ravel
;
Mathilde Renaud
;
Jean Muller
;
Aurélie Becker
;
Émeline Renard
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-10 (2023)
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7 . Academic Journal
Scale-Up of Academic Mesenchymal Stromal Cell Production
저자
by
Caroline Laroye
;
Mélanie Gauthier
;
Jessica Morello
;
Naceur Charif
;
Véronique Latger Cannard
, et al.
소스
Journal of Clinical Medicine, Vol 12, Iss 13, p 4414 (2023)
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7 . Academic Journal
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
저자
by
Natacha Sloboda
;
Laetitia Lambert
;
Viorica Ciorna
;
Ange‐Line Bruel
;
Frédéric Tran Mau‐Them
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
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7 . Academic Journal
Multistage hematopoietic stem cell regulation in the mouse: A combined biological and mathematical approach
저자
by
Céline Bonnet
;
Panhong Gou
;
Simon Girel
;
Vincent Bansaye
;
Catherine Lacout
, et al.
소스
iScience, Vol 24, Iss 12, Pp 103399- (2021)
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7 . Academic Journal
MAN1B1-CDG: Three new individuals and associated biochemical profiles
저자
by
Soraya Sakhi
;
Sophie Cholet
;
Samer Wehbi
;
Bertrand Isidor
;
Benjamin Cogne
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100775- (2021)
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7 . Academic Journal
5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints
저자
by
Sandrine M. Caputo
;
Dominique Telly
;
Adrien Briaux
;
Julie Sesen
;
Maurizio Ceppi
, et al.
소스
Cancers, Vol 13, Iss 13, p 3171 (2021)
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7 . Academic Journal
Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity
저자
by
Natacha Sloboda
;
Arthur Sorlin
;
Mylène Valduga
;
Mylène Beri-Dexheimer
;
Claire Bilbault
, et al.
소스
Frontiers in Immunology, Vol 10 (2019)
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7 . Academic Journal
The impact of the French soda tax on prices and purchases. An ex post evaluation.
저자
by
Sara Capacci
;
Olivier Allais
;
Celine Bonnet
;
Mario Mazzocchi
.
소스
PLoS ONE, Vol 14, Iss 10, p e0223196 (2019)
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