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1 . Academic Journal
Salivary cholesterol level does not reflect cholesterolemia in children with heterozygous familial hypercholesterolemia
저자
by
Fricaudet, Marianne
;
Di Filippo, Mathilde
;
Moulin, Philippe
;
Nony, Séverine
;
Peron, Marie Anais
, et al.
소스
In
Nutrition clinique et métabolisme
September 2023 37(3):162-167
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7 . Academic Journal
PCSK9 post-transcriptional regulation: Role of a 3′UTR microRNA-binding site variant in linkage disequilibrium with c.1420G
저자
by
Decourt, Charlotte
;
Janin, Alexandre
;
Moindrot, Marine
;
Chatron, Nicolas
;
Nony, Séverine
, et al.
소스
In
Atherosclerosis
December 2020 314:63-70
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7 . Academic Journal
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia
저자
by
Di Filippo, Mathilde
;
Collardeau Frachon, Sophie
;
Janin, Alexandre
;
Rajan, Sujith
;
Marmontel, Oriane
, et al.
소스
In
Atherosclerosis
May 2019 284:75-82
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7 . Academic Journal
Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia
저자
by
Marmontel, Oriane
;
Di Filippo, Mathilde
;
Marcais, Christophe
;
Nony, Séverine
;
Dumoux, Marjorie
, et al.
소스
In
Atherosclerosis
October 2017 265:22-28
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7 . Primary Source
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T
저자
by
Henry, Zoé
;
Janin, Alexandre
;
Nony, Séverine
;
Marmontel, Oriane
;
Cariou, Bertrand
, et al.
소스
Clinical Chemistry and Laboratory Medicine (CCLM)
. 61(12):e259-e262
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7 . Academic Journal
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
Lunati‐Rozie, Ariane
;
Janin, Alexandre
;
Faubert, Emmanuelle
;
Nony, Severine
;
Renoux, Céline
, et al.
소스
British Journal of Haematology
. May2023, Vol. 201 Issue 4, pe46-e49. 4p.
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7 . Academic Journal
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
저자
by
Vanhoye, Xavier
;
Janin, Alexandre
;
Caillaud, Amandine
;
Rimbert, Antoine
;
Venet, Fabienne
, et al.
소스
International Journal of Molecular Sciences
. Apr2022, Vol. 23 Issue 8, p4281-4281. 13p.
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7 . Academic Journal
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
저자
by
Januel, Louis
;
Chanavat, Valérie
;
Rollat-Farnier, Pierre-Antoine
;
Bardel, Claire
;
Nony, Severine
, et al.
소스
DNA & Cell Biology
. Mar2021, Vol. 40 Issue 3, p491-498. 8p.
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7 . Academic Journal
Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia.
저자
by
Marmontel, Oriane
;
Rollat‐Farnier, Pierre Antoine
;
Wozny, Anne‐Sophie
;
Charrière, Sybil
;
Vanhoye, Xavier
, et al.
소스
Clinical Genetics
. Dec2020, Vol. 98 Issue 6, p589-594. 6p.
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7 . Academic Journal
Strong heterogeneity in plasma triglyceride lipolysis in multifactorial chylomicronemia
저자
by
Marmontel, Oriane
;
Di Filippo, Mathilde
;
Marcais, Christophe
;
Nony, Severine
;
Dumoux, Marjorie
, et al.
소스
In
Atherosclerosis
August 2017 263:e67-e67
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