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1 . Academic Journal
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
저자
by
Xavier Vanhoye
;
Alexandre Janin
;
Amandine Caillaud
;
Antoine Rimbert
;
Fabienne Venet
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4281 (2022)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the
ANK1
gene: Report of two cases of hereditary spherocytosis
저자
by
Ariane Lunati‐Rozie
;
Alexandre Janin
;
Emmanuelle Faubert
;
Severine Nony
;
Céline Renoux
, et al.
소스
British Journal of Haematology
. 201
Full Text (Wiley)
Scopus
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7 .
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
저자
by
Valérie Chanavat
;
Pierre-Antoine Rollat-Farnier
;
Gilles Millat
;
Alexandre Janin
;
Claire Bardel
, et al.
소스
DNA and cell biology
. 40(3)
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7 .
Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia
저자
by
Philippe Moulin
;
Igor Tauveron
;
Mathilde Di Filippo
;
Christophe Marçais
;
Chantal Jacobs
, et al.
소스
Clinical Genetics
Clinical Genetics, Wiley, 2020, 98 (6), pp.589-594. ⟨10.1111/cge.13832⟩
Scopus
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7 .
PCSK9 post-transcriptional regulation: Role of a 3′UTR microRNA-binding site variant in linkage disequilibrium with c.1420G
저자
by
Claire Bardel
;
O. Marmontel
;
Manon Muntaner
;
Eléonore Divry
;
Philippe Moulin
, et al.
소스
Atherosclerosis
Atherosclerosis, 2020, 314, pp.63-70. ⟨10.1016/j.atherosclerosis.2020.10.010⟩
Atherosclerosis, Elsevier, 2020, 314, pp.63-70. ⟨10.1016/j.atherosclerosis.2020.10.010⟩
Scopus
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7 .
Author response for 'DEVELOPMENT OF A NEW EXPANDED NEXT‐GENERATION SEQUENCING PANEL FOR GENETIC DISEASES INVOLVED IN DYSLIPIDEMIA'
저자
by
Sybil Charrière
;
Chantal Jacobs
;
Mathilde Di Filippo
;
Noël Peretti
;
Thomas Simonet
, et al.
소스
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7 .
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy
저자
by
Philippe Moulin
;
Séverine Nony
;
Sybil Charrière
;
O. Marmontel
;
Muriel Mahl
, et al.
소스
Clinical Genetics
Clinical Genetics, Wiley, 2018, 94 (1), pp.132-140. ⟨10.1111/cge.13250⟩
Clinical Genetics, 2018, 94 (1), pp.132-140. ⟨10.1111/cge.13250⟩
Web of Science
Scopus
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7 .
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
저자
by
Claire Bardel
;
Valérie Chanavat
;
Emma Albert
;
Pierre-Antoine Rollat-Farnier
;
Gilles Millat
, et al.
소스
Human mutationREFERENCES
. 41(2)
Scopus
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7 .
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia
저자
by
Mathilde Di Filippo
;
Sophie Collardeau Frachon
;
Oriane Marmontel
;
Alexandre Janin
;
Charlotte Cuerq
, et al.
소스
Atherosclerosis
Atherosclerosis, 2019, 284, pp.75--82. ⟨10.1016/j.atherosclerosis.2019.02.016⟩
Atherosclerosis, 2019, 284, pp.75-82. ⟨10.1016/j.atherosclerosis.2019.02.016⟩
Open Access (OpenAIRE)
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7 .
Impact of APOB missense variations on apolipoprotein B secretion: A CRISPR-cas9 model
저자
by
Sybil Charrière
;
P. Moulin
;
Alexandre Janin
;
Séverine Nony
;
N. Bachour
, et al.
소스
Atherosclerosis
. 315:e51
Full Text (Clinical Key)
Web of Science
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