Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Andrés, D Gómez"'
Autor:
Corvó, A., Matalonga, L., Hernandez-Ferrer, C., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., de Sandre-Giovannoli, Annachiara, Desaphy, J., Altamura, C., Wahbi, K., Vigouroux, C., Zurek, B., Rheinard, C., Andrés, D. Gómez, Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Yaou, R. Ben, Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Bonne, Gisèle
Publikováno v:
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
International audience; Although next-generation sequencing (NGS) has drastically improved diagnosis for patients with rare diseases (RDs), access to knowledge of effective treatments is still sparse and often unclear. The large number of RDs (>7,000
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3430::992340584d58ba86da21aa04ca150f23
https://hal.science/hal-04086225
https://hal.science/hal-04086225
Autor:
Atalaia, A, Ferrer, C Hernandez, Corvó, A, Matalonga, L, Thompson, R, Carmody, L, Piscia, D, Macaya, A, Lochmuller, A, Manta, A, Fontaine, B, Vicart, S, Desaphy, JF, Altamura, C, Wahbi, K, de Sandre-Giovannoli, Annachiara, Vigouroux, C, Zurek, B, Rheinard, C, Andrés, D Gómez, Schon, K, Over, L, Brüggemann, N, Lohmann, K, Jennings, MJ, Synofzik, M, Riess, O, Yaou, R Ben, Evangelista, T, Ratnaike, T, Facer, V Bros, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle
Publikováno v:
Solve-RD Annual Meeting 2022
Solve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany
Solve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9650f299996da704195d94198efe534e
https://hal.science/hal-03989222
https://hal.science/hal-03989222
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S76-S76
Autor:
Segovia-Simon, S., Nungo, C., Costa, J. Vazquez, Pitarch, I., Caballero, J., Sánchez, C. Rodríguez, Pascual, S., Expósito, J., Cazcarra, C. Marco, Povedano, M., Pareja, A., Lobato, M. Lopez, Álvarez, M., Costa, L., Andrés, D. Gómez, Munell, F., Moreno, A., Martínez, E., Nascimento, A.
Publikováno v:
In Neuromuscular Disorders October 2022 32 Supplement 1:S60-S60
Akademický článek
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Autor:
Dabaj, I., Quijano-Roy, S., Estournet, B., Eymard, B., Stojkovic, T., Wallgren-Pettersson, C., Carlier, P., Andres, D. Gomez, Dore, B., Malfatti, E., Romero, N., Carlier, R.
Publikováno v:
In Neuromuscular Disorders October 2014 24(9-10):897-897
Autor:
Dabaj, I., Hankiewicz, K., Carlier, R., Lazaro, L., Linzoain, J., Barnerias, C., Avila-Smirnow, D., Andres, D. Gomez, Ferreiro, A., Estournet, B., Richard, P., Bulacio, S., Quijano-Roy, S.
Publikováno v:
In Neuromuscular Disorders October 2014 24(9-10):879-879