Zobrazeno 1 - 10
of 22
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
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
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
Autor:
Takic, Marija1 (AUTHOR) biljana.pokimica@imi.bg.ac.rs, Pokimica, Biljana1 (AUTHOR), Petrovic-Oggiano, Gordana1 (AUTHOR), Popovic, Tamara1 (AUTHOR)
Publikováno v:
Molecules. Jul2022, Vol. 27 Issue 14, pN.PAG-N.PAG. 23p.
Autor:
Deveci, Gülsüm, Çelik, Elif, Ağagündüz, Duygu, Bartkiene, Elena, Rocha, João Miguel F., Özogul, Fatih
Publikováno v:
Fermentation (Basel); Nov2023, Vol. 9 Issue 11, p923, 50p
188P Easy neurocognitive and social evaluation could detect abnormal neurodevelopment in SMA Type 1.
Autor:
Molinero, M. Alvarez1 (AUTHOR), Pires, N.2 (AUTHOR), Uzquiano, R. Garcia2 (AUTHOR), de la Banda, M. Gómez Garcia2 (AUTHOR), Comellas, L. Costa1 (AUTHOR), Expósito, L. Ventura1 (AUTHOR), Casadesús, F. Munell1 (AUTHOR), Benezit, A.2 (AUTHOR), Andrés, D. Gómez1 (AUTHOR), Roy, S. Quijano2 (AUTHOR)
Publikováno v:
Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.