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Bozon, Dominique
66  results:
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1

Normal serum ApoB48 and red cells vitamin E concentrations ..:

Di Filippo, Mathilde ; Collardeau Frachon, Sophie ; Janin, Alexandre...
Atherosclerosis.  284 (2019)  - p. 75-82 , 2019
Link: https://doi.org/10.1016/..
 
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2

Splicing analysis of 26 F8 nucleotide variations using a mi..:

Jourdy, Yohann ; Fretigny, Mathilde ; Nougier, Christophe...
Haemophilia.  25 (2019)  2 - p. 306-315 , 2019
Link: https://doi.org/10.1111/..
 
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3

Global molecular analysis and APOE mutations in a cohort of..:

Wintjens, René ; Bozon, Dominique ; Belabbas, Khaldia...
Journal of Lipid Research.  57 (2016)  3 - p. 482-491 , 2016
Link: https://doi.org/10.1194/..
 
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4

New Family With Catecholaminergic Polymorphic Ventricular T..:

ROORYCK, CAROLINE ; KYNDT, FLORENCE ; BOZON, DOMINIQUE...
Journal of Cardiovascular Electrophysiology.  26 (2015)  10 - p. 1146-1150 , 2015
Link: https://doi.org/10.1111/..
 
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5

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth d..:

Echaniz-Laguna, Andoni ; Ghezzi, Daniele ; Chassagne, Maïté...
Neurology.  81 (2013)  17 - p. 1523-1530 , 2013
Link: https://doi.org/10.1212/..
 
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6

Molecular and functional analysis of two new MTTP gene muta..:

Di Filippo, Mathilde ; Créhalet, Hervé ; Samson-Bouma, Marie Elisabeth...
Journal of Lipid Research.  53 (2012)  3 - p. 548-555 , 2012
Link: https://doi.org/10.1194/..
 
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7

Combined Use of In Silico and In Vitro Splicing Assays for ..:

Crehalet, Hervé ; Millat, Gilles ; Albuisson, Juliette...
Cardiogenetics.  2 (2012)  1 - p. e6 , 2012
Link: https://doi.org/10.4081/..
 
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8

POLG exon 22 skipping induced by different mechanisms in tw..:

Mousson de Camaret, Bénédicte ; Chassagne, Maïté ; Mayençon, Martine...
Mitochondrion.  11 (2011)  1 - p. 223-227 , 2011
Link: https://doi.org/10.1016/..
 
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9

U1 snRNA mis-binding: a new cause of CMT1B:

Crehalet, Hervé ; Latour, Philippe ; Bonnet, Véronique...
neurogenetics.  11 (2009)  1 - p. 13-19 , 2009
Link: https://doi.org/10.1007/..
 
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10

Maternal isodisomy of the telomeric end of chromosome 2 is ..:

Chevalier‐Porst, Françoise ; Rolland, Marie‐Odile ; Cochat, Pierre.
American Journal of Medical Genetics Part A.  132A (2004)  1 - p. 80-83 , 2004
Link: https://doi.org/10.1002/..
 
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11

Progressive reversion of clinical and molecular phenotype i..:

Ducluzeau, Pierre-Henri ; Lachaux, Alain ; Bouvier, Raymonde...
Journal of Hepatology.  36 (2002)  5 - p. 698-703 , 2002
Link: https://doi.org/10.1016/..
 
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12

Creatine kinase isoenzymes specificities: histidine 65 in h..:

Mourad-Terzian, Tamara ; Steghens, Jean-Paul ; Min, Kyung-Lyum..
FEBS Letters.  475 (2000)  1 - p. 22-26 , 2000
Link: https://doi.org/10.1016/..
 
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13

The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are g..:

Cudry, Stéphane ; Froissart, Roseline ; Bouton, Olivier..
Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression.  1447 (1999)  1 - p. 35-42 , 1999
Link: https://doi.org/10.1016/..
 
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14

COS cell expression studies of P86L, P86R, P480L and P480Q ..:

Millat, Gilles ; Froissart, Roseline ; Cudry, Stéphane...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1406 (1998)  2 - p. 214-218 , 1998
Link: https://doi.org/10.1016/..
 
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15

Identification of iduronate sulfatase gene alterations in 7..:

Froissart, Roseline ; Maire, Irène ; Millat, Gilles...
Clinical Genetics.  53 (1998)  5 - p. 362-368 , 1998
Link: https://doi.org/10.1111/..
 
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