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/vufind/Search/Results?lookfor=%22Di+Filippo%2C+Mathilde%22&type=Person&sort=year
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PubPharm (71)
1
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations
enthalten in:
Clinical chemistry and laboratory medicine
| 2024
von
Bonnot Ruget, M.
|
Moulin, P.
|
Pagan, C.
| +5
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2
Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development
enthalten in:
Liver international : official journal of the International Association for the Study of the Liver
| 2024
von
Chouik, Y.
|
Di Filippo, M.
|
Radenne, S.
| +3
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3
Assessment of three equations to calculate plasma LDL cholesterol concentration in fasting and non-fasting hypertriglyceridemic patients
enthalten in:
Clinical chemistry and laboratory medicine
| 2024
von
Vasse, J.
|
Lassartesse, A.
|
Marmontel, O.
| +5
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4
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis : the example of the missense mutation APOB c.1468C>T
enthalten in:
Clinical chemistry and laboratory medicine
| 2023
von
Henry, Z.
|
Janin, A.
|
Nony, S.
| +9
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5
Efficacy of daratumumab in refractory primary Sjögren disease
enthalten in:
RMD open
| 2023
von
Nocturne, G.
|
Marmontel, O.
|
di Filippo, M.
| +7
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6
Assessment of three equations to calculate plasma LDL cholesterol concentration in fasting and non-fasting hypertriglyceridemic patients
enthalten in:
Clinical chemistry and laboratory medicine
| 2023
von
Vasse, J.
|
Lassartesse, A.
|
Marmontel, O.
| +5
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7
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia
enthalten in:
Arteriosclerosis, thrombosis, and vascular biology
| 2023
von
Marmontel, O.
|
Abou-Khalil, Y.
|
Bluteau, O.
| +12
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8
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T
enthalten in:
Clinical chemistry and laboratory medicine
| 2023
von
Henry, Z.
|
Janin, A.
|
Nony, S.
| +9
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9
New CRISPR Technology for Creating Cell Models of Lipoprotein Assembly and Secretion
enthalten in:
Current atherosclerosis reports
| 2023
von
Anaganti, N.
|
Chattopadhyay, A.
|
Di Filippo, M.
| +1
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10
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia
enthalten in:
Translational research : the journal of laboratory and clinical medicine
| 2023
von
Vanhoye, X.
|
Bardel, C.
|
Rimbert, A.
| +16
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Medienart
71
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58
E-Artikel
58
E-Ressourcen
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Zeitschriftentitel
11
Atherosclerosis
8
Clinical chemistry and laboratory medicine
8
Journal of clinical lipidology
6
Journal of lipid research
4
Arteriosclerosis, thrombosis, and vascular biology
2
American journal of human genetics
2
Biochimie
2
International journal of molecular sciences
2
Journal of hepatology
2
Orphanet journal of rare diseases
2
Pediatric transplantation
2
PloS one
1
Atherosclerosis plus
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Circulation
1
Clinical Genetics
1
Clinical genetics
1
Current atherosclerosis reports
1
European journal of human genetics : EJHG
1
Gastroenterology
1
Human mutation
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Thema
45
Journal Article
17
Research Support, Non-U.S. Gov't
13
Triglycerides
10
Cholesterol, LDL
10
EC 3.4.21.-
10
Proprotein Convertase 9
9
Apolipoproteins B
8
PCSK9 protein, human
6
Apolipoproteins E
6
Case Reports
6
Letter
6
Receptors, LDL
5
Biomarkers
5
Carrier Proteins
5
Cholesterol
5
EC 3.1.1.34
5
Lipoprotein Lipase
5
Lipoproteins
4
3' Untranslated Regions
4
97C5T2UQ7J
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Erscheinungszeitraum
36
2020-
35
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
64
Englisch
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