Хайлтын үр дүнгүүд - Isidor, B

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene -н Winer, N., Kyndt, F., Paumier, A., David, A., Isidor, B., Quentin, M., Jouitteau, B., Sanyas, P., Philippe, H. J., Hernandez, A., Krakow, D., Le Caignec, C.

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A novel mutatioin in the PSTPIP1 gene is associated with an autoinflammatory disease distinct from classical PAPA syndrome -н Holzinger, D, Austermann, J, Lohse, P, Aksentijevich, I, Holland, S, Gattorno, M, Rodríguez-Gallego, C, Fessatou, S, Isidor, B, Tokio, S, Bernstein, J, Sampson, B, Sunderkoetter, C, Roth, J

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Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions -н Dubourg, C., Bonnet-Brilhault, F., Toutain, A., Mignot, C., Jacquette, A., Dieux, A., Gérard, M., Beaumont-Epinette, M.-P., Julia, S., Isidor, B., Rossi, M., Odent, S., Bendavid, C., Barthélémy, C., Verloes, A., David, V.

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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients -н Baux, D., Vaché, C., Blanchet, C., Willems, M., Baudoin, C., Moclyn, M., Faugère, V., Touraine, R., Isidor, B., Dupin-Deguine, D., Nizon, M., Vincent, M., Mercier, S., Calais, C., García-García, G., Azher, Z., Lambert, L., Perdomo-Trujillo, Y., Giuliano, F., Claustres, M., Koenig, M., Mondain, M., Roux, A. F.

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B -н Halgren, C, Kjaergaard, S, Bak, M, Hansen, C, El-Schich, Z, Anderson, CM, Henriksen, KF, Hjalgrim, H, Kirchhoff, M, Bijlsma, EK, Nielsen, M, den Hollander, NS, Ruivenkamp, CAL, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N, Bache, I

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PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype -н Holzinger, D, Lohse, P, Faßl, S, Austermann, J, Vogl, T, de Jager, W, Holland, S, Gattorno, M, Rodriguez-Gallego, C, Arostegui, J, Fessatou, S, Isidor, B, Ito, K, Epple, H-J, Bernstein, J, Jeng, M, Lionetti, G, Ong, P, Hinze, C, Sampson, B, Sunderkoetter, C, Foell, D, Chae, J, Ombrello, A, Brady, J, Aksentijevich, I, Roth, J

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A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2 -н Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., Moustafa, J. S. El-Sayed, Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J.-M., Lemaitre, M.-P., Ambresin, A.-E., Brioshi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.-L., Le Caignec, C., David, A., Isidor, B., Cordier, M.-P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Deixheimer, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.

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