Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy by Marmontel, O., Charrière, S., Simonet, T., Bonnet, V., Dumont, S., Mahl, M., Jacobs, C., Nony, S., Chabane, K., Bozon, D., Janin, A., Peretti, N., Lachaux, A., Bardel, C., Millat, G., Moulin, P., Marçais, C., Di Filippo, M.

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Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization by Jourdy, Yohann, Janin, Alexandre, Fretigny, Mathilde, Lienhart, Anne, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine

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Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene by Chevalier-Porst, F., Souche, G., Bozon, D.

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Mucopolysaccharidosis type II - genotype/phenotype aspects by Froissart, R, da Silva, I Moreira, Guffon, N, Bozon, D, Maire, I

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Identification of Mutations in Regions Corresponding to the Two Putative Nucleotide (ATP)-Binding Folds of the Cystic Fibrosis Gene by Kerem, Bat-sheva, Zielenski, Julian, Markiewicz, Danuta, Bozon, Dominique, Gazit, Ephraim, Yahav, Jacob, Kennedy, Dara, Riordan, John R., Collins, Francis S., Rommens, Johanna M., Tsui, Lap-Chee

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Le déficit en SURF1 est une cause de la maladie de Charcot-Marie-Tooth by Echaniz-Laguna, A., Ghezzi, D., Latour, P., Rouvet, I., Bozon, D., Zeviani, M., Mousson De Camaret, B.

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MPS II in females: molecular basis of two different cases by CUDRY, STÉPHANE, TIGAUD, ISABELLE, FROISSART, ROSELINE, BONNET, VÉRONIQUE, MAIRE, IRÈNE, BOZON, DOMINIQUE

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Molecular basis of Mucopolysaccharidosis type II in Portugal: identification of four novel mutations by Moreira da Silva, I, Froissart, R, Marques dos Santos, H, Caseiro, C, Maire, I, Bozon, D

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Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy by Marmontel, O., Charrière, S., Simonet, T., Bonnet, V., Dumont, S., Mahl, M., Jacobs, C., Nony, S., Chabane, K., Bozon, D., Janin, A., Peretti, N., Lachaux, A., Bardel, Claire, Millat, G., Moulin, P., Marçais, C., Di Filippo, M.

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A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance by Dumoulin, R, Sagnol, I, Ferlin, T, Bozon, D, Stepien, G, Mousson, B

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Identification of 5 novel mutations in the AGXT gene by Basmaison, Odile, Rolland, Marie-Odile, Cochat, Pierre, Bozon, Dominique

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Combined liver-kidney transplantation in primary hyperoxaluria type 1 by Cochat, P, Gaulier, J M, Koch Nogueira, P C, Feber, J, Jamieson, N V, Rolland, M O, Divry, P, Bozon, D, Dubourg, L

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Processing of iduronate 2-sulphatase in human fibroblasts by Froissart, R, Millat, G, Mathieu, M, Bozon, D, Maire, I

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Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone by ROMEY, M.-C, GUITTARD, C, BOZON, D, SEGURET, F, DEMAILLE, J, CLAUSTRES, M, CHAZALETTE, J.-P, FROSSARD, P, DAWSON, K. P, PATTON, M. A, CASALS, T, BAZARBACHI, T, GIRODON, E, RAULT, G

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Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France by Claustres, Mireille, Guittard, Caroline, Bozon, Dominique, Chevalier, Françoise, Verlingue, Claudine, Ferec, Claude, Girodon, Emanuelle, Cazeneuve, Cécile, Bienvenu, Thierry, Lalau, Guy, Dumur, Viviane, Feldmann, Delphine, Bieth, Eric, Blayau, Martine, Clavel, Christine, Creveaux, Isabelle, Malinge, Marie-Claire, Monnier, Nicole, Malzac, Perrine, Mittre, Hervé, Chomel, Jean-Claude, Bonnefont, Jean-Paul, Iron, Albert, Chery, Michèle, Georges, Marie Des

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IDS Transfer from Overexpressing Cells to IDS-Deficient Cells by Millat, G., Froissart, R., Maire, I., Bozon, D.

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Arthroscopic shoulder suspensioplasty in painful hemiplegic shoulder subluxation-a case series by Bozon, Olivier, Casamenti, Vittoria, Coroian, Flavia, Laffont, Isabelle, Coulet, Bertrand

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Over diagnosis of bradykinin angioedema in patients treated with angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers by Douillard, Marie, Deheb, Zineb, Bozon, Agathe, Raison-Peyron, Nadia, Dereure, Olivier, Moulis, Lionel, Soria, Angèle, Du-Thanh, Aurélie

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Genetic determination of exocrine pancreatic function in cystic fibrosis by Kristidis, P, Bozon, D, Corey, M, Markiewicz, D, Rommens, J, Tsui, L C, Durie, P

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Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples by Ribeiro, Diogo, Cardoso, Ana, Duarte, Ana Joana, Vieira, Luis, Amaral, Olga

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