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The UMD-LDLR database: additions to the software and 490 new entries to the database. [electronic resource] by
- Villéger, Ludovic
- Abifadel, Marianne
- Allard, Delphine
- Rabès, Jean-Pierre
- Thiart, Rochelle
- Kotze, Maritha J
- Béroud, Christophe
- Junien, Claudine
- Boileau, Catherine
- Varret, Mathilde
Producer: 20020816
In:
Human mutation vol. 20
Availability: No items available.
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Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia. [electronic resource] by
- Jelassi, Awatef
- Slimani, Afef
- Rabès, Jean Pierre
- Jguirim, Imen
- Abifadel, Marianne
- Boileau, Catherine
- Najah, Mohamed
- M'rabet, Samir
- Mzid, Jawher
- Slimane, Mohamed Naceur
- Varret, Mathilde
Producer: 20130517
In:
Clinica chimica acta; international journal of clinical chemistry vol. 414
Availability: No items available.
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Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. [electronic resource] by
- Di Filippo, Mathilde
- Créhalet, Hervé
- Samson-Bouma, Marie Elisabeth
- Bonnet, Véronique
- Aggerbeck, Lawrence P
- Rabès, Jean-Pierre
- Gottrand, Frederic
- Luc, Gérald
- Bozon, Dominique
- Sassolas, Agnès
Producer: 20120628
In:
Journal of lipid research vol. 53
Availability: No items available.
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15.
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PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk. [electronic resource] by
- Slimani, Afef
- Hrira, Mohamed Yahia
- Najah, Mohamed
- Jomaa, Walid
- Maatouk, Faouzi
- Hamda, Khaldoun Ben
- Abifadel, Marianne
- Rabès, Jean-Pierre
- Boileau, Catherine
- Rouis, Mustapha
- Slimane, Mohamed Naceur
- Varret, Mathilde
Producer: 20151110
In:
Molecular and cellular probes vol. 29
Availability: No items available.
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16.
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High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry. [electronic resource] by
- Béliard, Sophie
- Boccara, Franck
- Cariou, Bertrand
- Carrié, Alain
- Collet, Xavier
- Farnier, Michel
- Ferrières, Jean
- Krempf, Michael
- Peretti, Noël
- Rabès, Jean-Pierre
- Varret, Mathilde
- Vimont, Alexandre
- Charrière, Sybil
- Bruckert, Eric
Producer: 20191101
In:
Atherosclerosis vol. 277
Availability: No items available.
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17.
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Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. [electronic resource] by
- Amsellem, Sabine
- Briffaut, Dorothée
- Carrié, Alain
- Rabès, Jean Pierre
- Girardet, Jean Philippe
- Fredenrich, Alexandre
- Moulin, Philippe
- Krempf, Michel
- Reznik, Yves
- Vialettes, Bernard
- de Gennes, Jean Luc
- Brukert, Eric
- Benlian, Pascale
Producer: 20030122
In:
Human genetics vol. 111
Availability: No items available.
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18.
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Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families. [electronic resource] by
- Di Filippo, Mathilde
- Varret, Mathilde
- Boehm, Vanessa
- Rabès, Jean-Pierre
- Ferkdadji, Latifa
- Abramowitz, Laurent
- Dumont, Sabrina
- Lenaerts, Catherine
- Boileau, Catherine
- Joly, Francisca
- Schmitz, Jacques
- Samson-Bouma, Marie-Elisabeth
- Bonnefont-Rousselot, Dominique
Producer: 20200505
In:
Journal of clinical lipidology vol. 13
Availability: No items available.
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19.
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The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. [electronic resource] by
- Abifadel, Marianne
- Rabès, Jean-Pierre
- Jambart, Sélim
- Halaby, Georges
- Gannagé-Yared, Marie-Hélène
- Sarkis, Antoine
- Beaino, Ghada
- Varret, Mathilde
- Salem, Nabiha
- Corbani, Sandra
- Aydénian, Hermine
- Junien, Claudine
- Munnich, Arnold
- Boileau, Catherine
Producer: 20090923
In:
Human mutation vol. 30
Availability: No items available.
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20.
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Molecular spectrum of autosomal dominant hypercholesterolemia in France. [electronic resource] by
- Marduel, Marie
- Carrié, Alain
- Sassolas, Agnes
- Devillers, Martine
- Carreau, Valérie
- Di Filippo, Mathilde
- Erlich, Danièle
- Abifadel, Marianne
- Marques-Pinheiro, Alice
- Munnich, Arnold
- Junien, Claudine
- Boileau, Catherine
- Varret, Mathilde
- Rabès, Jean-Pierre
Producer: 20101216
In:
Human mutation vol. 31
Availability: No items available.
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