Light response and efficiency calibration of EJ309 liquid scintillator between 3 and 45 MeV
Frégeau, M.O., Delarue, M., Frelin-Labalme, A.-M., Laurent, B., Ledoux, X., Varignon, C.
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (11.10.2019)
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (11.10.2019)
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Journal Article
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., Simonet, T., Maincent, K., Rossi, M., Till, M., Mougou-Zerelli, S., Edery, P., Saad, A., Heron, D., des Portes, V., Sanlaville, D., Lesca, G.
Published in Clinical genetics (01.02.2016)
Published in Clinical genetics (01.02.2016)
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Journal Article
Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders
Yammine, T, Reynaud, N, Lejeune, H, Diguet, F, Rollat-Farnier, P A, Labalme, A, Plotton, I, Farra, C, Sanlaville, D, Chouery, E, Schluth-Bolard, C
Published in Molecular human reproduction (29.05.2021)
Published in Molecular human reproduction (29.05.2021)
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Journal Article
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
Benko, Sabina, Gordon, Christopher T, Mallet, Delphine, Sreenivasan, Rajini, Thauvin-Robinet, Christel, Brendehaug, Atle, Thomas, Sophie, Bruland, Ove, David, Michel, Nicolino, Marc, Labalme, Audrey, Sanlaville, Damien, Callier, Patrick, Malan, Valerie, Huet, Frédéric, Molven, Anders, Dijoud, Frédérique, Munnich, Arnold, Faivre, Laurence, Amiel, Jeanne, Harley, Vincent, Houge, Gunnar, Morel, Yves, Lyonnet, Stanislas
Published in Journal of medical genetics (01.12.2011)
Published in Journal of medical genetics (01.12.2011)
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Journal Article
Statistical method to compare massive parallel sequencing pipelines
Elsensohn, M H, Leblay, N, Dimassi, S, Campan-Fournier, A, Labalme, A, Roucher-Boulez, F, Sanlaville, D, Lesca, G, Bardel, C, Roy, P
Published in BMC bioinformatics (01.03.2017)
Published in BMC bioinformatics (01.03.2017)
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Journal Article
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease
Chatron, N., Lesca, G., Labalme, A., Rollat‐Farnier, P.A., Monin, P., Pichot, E., Edery, P., Sanlaville, D., Rossi, M.
Published in Clinical genetics (01.07.2017)
Published in Clinical genetics (01.07.2017)
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Journal Article
West syndrome due to compound heterozygous QARS mutations
Poulat, A.L, Lesca, G, Chatron, N, Labalme, A, Des Portes, V, Sanlaville, D, De Bellescize, J, Ville, D
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history
Nguyen, K., Putoux, A., Busa, T., Cordier, M.P., Sigaudy, S., Till, M., Chabrol, B., Michel-Calemard, L., Bernard, R., Julia, S., Malzac, P., Labalme, A., Missirian, C., Edery, P., Popovici, C., Philip, N., Sanlaville, D.
Published in Clinical genetics (01.05.2015)
Published in Clinical genetics (01.05.2015)
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Journal Article
6q22.1 deletion is associated with epilepsy and abnormal movements
Schluth-Bolard, C, Flamand-Roze, E, Masurel, A, Olivier-Faivre, L, Callier, P, Charles, P, Keren, B, Guillot, N, Labalme, A, Sanlaville, D, Mochel, F, Des Portes, V, Lesca, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Next-generation sequencing (NGS) is a powerful tool to improve diagnostic yield in intellectual disability
Labalme, A, Chatron, N, Till, M, Cordier, M.P, Rossi, M, Putoux, A, Pons, L, des Portes, V, Edery, P, Sanlaville, D, Lesca, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2
Chatron, N, Møller, R.S, Champaigne, N.L, Kuechler, A, Labalme, A, Baggett, L, Wieczorek, D, Portes, V. des, Edery, P, Gardella, E, Scheffer, I.E, Mefford, H, Sanlaville, D, Carvill, G.L, Lesca, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism
Faoucher, M, Putoux, A, Francannet, C, Poulat, A.L, Chatron, N, Aquaviva, C, Labalme, A, Schluth-Bolard, C, Till, M, Saban, C, Desportes, V, Sanlaville, D, Edery, P, Lesca, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Christianson syndrome: An underestimated cause of electrical status epilepticus in sleep?
Mathieu, M.-L, de Bellescize, J, Till, M, Labalme, A, Chatron, N, Sanlaville, D, Ostrowsky-Coste, K, Des Portes, V, Lesca, G
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Delayed gamma power measurement for sodium-cooled fast reactors
Coulon, R., Normand, S., Ban, G., Barat, E., Montagu, T., Dautremer, T., Brau, H.-P., Dumarcher, V., Michel, M., Barbot, L., Domenech, T., Boudergui, K., Bourbotte, J.-M., Jousset, P., Barouch, G., Ravaux, S., Carrel, F., Saurel, N., Frelin-Labalme, A.-M., Hamrita, H., Kondrasovs, V.
Published in Nuclear engineering and design (2011)
Published in Nuclear engineering and design (2011)
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Journal Article
OP13 – 2799: Landau-Kleffner syndrome (LKS), continuous spike and waves during slow-wave sleep syndrome (CSWSS), and Rolandic epilepsy (RE) – A genetic and immunological study
Wright, S, Waters, P, Lesca, G, Rudolf, G, Sanlaville, D, Jacobson, L, Hirsch, E, Labalme, A, Szepetowski, P, Vincent, A
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Journal Article
Next-generation sequencing allows a diagnostic yield of 23.7% in monogenic epilepsies
Lesca, G, Labalme, A, Mignot, C, Chatron, N, Van de Velde Boermans, L, des Portes, V, Bogoin, J, Ville, D, de Belescize, J, Nougues, M.C, Doummar, D, Afenjar, A, Poulat, A.L, Panagiotakaki, E, Valence, S, Arzimanoglou, A, Heron, D, Leguern, E, Sanlaville, D, Nava, C
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Small animal image-guided radiotherapy: A new era for preclinical studies
Delpon, G, Frelin-Labalme, A-M, Heinrich, S, Beaudouin, V, Noblet, C, Begue, M, Le Deroff, C, Pouzoulet, F, Chiavassa, S
Published in Cancer radiothérapie (01.02.2016)
Published in Cancer radiothérapie (01.02.2016)
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Journal Article
Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital
Pons, L., Till, M., Alix, E., Abel, C., Boggio, D., Bordes, A., Caloone, J., Raskin, F.C., Chatron, N., Cordier, M.-P., Fichez, A., Labalme, A., Lajeunesse, C., Liaras, É., Massoud, M., Miribel, J., Ollagnon, E., Schluth-Bolard, C., Vichier-Cerf, A., Edery, P., Attia, J., Huissoud, C., Rudigoz, R.C., Massardier, J., Gaucherand, P., Sanlaville, D.
Published in Journal of gynecology obstetrics and human reproduction (01.03.2017)
Published in Journal of gynecology obstetrics and human reproduction (01.03.2017)
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Journal Article
Clinical and Molecular Characterization of a Combined 17p13.3 Microdeletion with Partial Monosomy 21q21.3 in a 26-Year-Old Man
Hannachi, H., Mougou-Zerelli, S., BenAbdallah, I., Mama, N., Hamdi, I., Labalme, A., Elghezal, H., Sanlaville, D., Saad, A.
Published in Cytogenetic and genome research (01.10.2011)
Published in Cytogenetic and genome research (01.10.2011)
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Journal Article