Novel CAPN3 variant associated with an autosomal dominant calpainopathy von Cerino, M., Campana‐Salort, E., Salvi, A., Cintas, P., Renard, D., Juntas Morales, R., Tard, C., Leturcq, F., Stojkovic, T., Bonello‐Palot, N., Gorokhova, S., Mortreux, J., Maues De Paula, A., Lévy, N., Pouget, J., Cossée, M., Bartoli, M., Krahn, M., Attarian, S.

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The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype von Rouzier, Cécile, Bannwarth, Sylvie, Chaussenot, Annabelle, Chevrollier, Arnaud, Verschueren, Annie, Bonello-Palot, Nathalie, Fragaki, Konstantina, Cano, Aline, Pouget, Jean, Pellissier, Jean-François, Procaccio, Vincent, Chabrol, Brigitte, Paquis-Flucklinger, Véronique

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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease von Mortreux, J, Bacquet, J, Boyer, A, Alazard, E, Bellance, R, Giguet-Valard, A G, Cerino, M, Krahn, M, Audic, F, Chabrol, B, Laugel, V, Desvignes, J P, Béroud, C, Nguyen, K, Verschueren, A, Lévy, N, Attarian, S, Delague, V, Missirian, C, Bonello-Palot, N

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Reconfigurable Rateless Codes von Bonello, N., Rong Zhang, Sheng Chen, Hanzo, L.

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Unveiling the Mysteries of Clopidogrel Metabolism and Efficacy von Bonello, L, Bonello, N, Grosdidier, C, Camoin‐Jau, L

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Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis von Agouti, I., Merono, F., Bonello-Palot, N., Badens, C.

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Pilot symbol assisted coding von BONELLO, N, CHEN, S, HANZO, L

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Total and Fetal Cell-Free DNA Analysis in Maternal Blood as Markers of Placental Insufficiency in Intrauterine Growth Restriction von Al Nakib, M., Desbrière, R., Bonello, N., Bretelle, F., Boubli, L., Gabert, J., Levy-Mozziconacci, A.

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Bias, guess and expert judgement in actuarial work von Tredger, E. R. W., Lo, J. T. H., Haria, S., Lau, H. H. K., Bonello, N., Hlavka, B., Scullion, C.

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Soluble adhesion molecules in serum throughout the menstrual cycle von Bonello, Nigel, Norman, Robert J.

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Retrospective study of 75 children with peripheral inherited neuropathy: Genotype–phenotype correlations von Hoebeke, C., Bonello-Palot, N., Audic, F., Boulay, C., Tufod, D., Attarian, S., Chabrol, B.

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Inhibition of nitric oxide: effects on interleukin-1 beta-enhanced ovulation rate, steroid hormones, and ovarian leukocyte distribution at ovulation in the rat von BONELLO, N, MCKIE, K, JASPER, M, ANDREW, L, ROSS, N, BRAYBON, E, BRÄNNSTRÖM, M, NORMAN, R. J

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496P Recessive missense variants in DARS2 gene as novel cause of axonal Charcot-Marie-Tooth disease von Estévez-Arias, B., Palot, N. Bonello, Carrera-García, L., Ortez, C., Expósito-Escudero, J., Yubero, D., Muchart, J., Delmont, E., Nascimento, A., Hoenicka, J., Palau, F., Natera-de Benito, D.

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A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP von Benquey, T., Fockens, E., Kouton, L., Delmont, E., Martini, N., Levy, N., Attarian, S., Bonello-Palot, N.

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Next-generation DNA sequencing in clinical diagnostics von Lacoste, C, Fabre, A, Pécheux, C, Lévy, N, Krahn, M, Malzac, P, Bonello-Palot, N, Badens, C, Bourgeois, P

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Colony stimulating factor-1 concentrations in blood and follicular fluid during the human menstrual cycle and ovarian stimulation: possible role in the ovulatory process von Shinetugs, B., Runesson, E., Bonello, N.P., Brännström, M., Norman, R.J.

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Pilot symbol assisted coding von Bonello, N, Chen, S, Hanzo, L

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Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation von Rotthier, Annelies, Baets, Jonathan, Vriendt, Els De, Jacobs, An, Auer-Grumbach, Michaela, Lévy, Nicolas, Bonello-Palot, Nathalie, Kilic, Sara Sebnem, Weis, Joachim, Nascimento, Andrés, Swinkels, Marielle, Kruyt, Moyo C., Jordanova, Albena, De Jonghe, Peter, Timmerman, Vincent

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Abstract 5013: Body Mass Index is the Main Determinant of High On-treatment Platelet Reactivity and of Failed Dose Adjustment According to Platelet Reactivity Monitoring von Bonello, N, Armero, S, Paganelli, F, Mancini, J, Maillard, L, de Labriolle, A, Barragan, P, Bonello, Caroline, Dignat-George, F, Camoin-Jau, L, Bonello, Laurent

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Le séquençage d’ADN à haut débit en pratique clinique von Lacoste, C., Fabre, A., Pécheux, C., Lévy, N., Krahn, M., Malzac, P., Bonello-Palot, N., Badens, C., Bourgeois, P.

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