Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Coll, M.J."'
Autor:
Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.
Publikováno v:
In Molecular Genetics and Metabolism June 2014 112(2):160-170
Autor:
Quijada Fraile, P., Martín Hernández, E., Martínez de Aragón, A., Macias-Vidal, J., Coll, M.J., Nogales Espert, A., García Silva, M.T.
Publikováno v:
In Anales de Pediatria 2010 73(5):257-263
Autor:
Pineda, M., Perez-Poyato, M.S., O’Callaghan, M., Vilaseca, M.A., Pocovi, M., Domingo, R., Ruiz Portal, L., Verdú Pérez, A., Temudo, T., Gaspar, A., Garcia Peñas, J.J., Roldán, S., Martín Fumero, L., Blanco de la Barca, O., García Silva, M.T., Macías-Vidal, J., Coll, M.J.
Publikováno v:
In Molecular Genetics and Metabolism 2010 99(4):358-366
Publikováno v:
In Journal of the Neurological Sciences 2006 249(1):1-6
Background: Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::7723b95908bdd72868b7ffd5c0d53b99
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056806
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056806
Publikováno v:
In Clinica Chimica Acta June 2019 493 Supplement 1:S449-S450
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal disorder characterised by the accumulation of a complex pattern of lipids in the lysosomal-late endosomal system. More than 300 disease-causing mutations have been identified so fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::9f8cdf03631ab04aefd16a7da606624d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090156
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3090156
Hunter and fragile-X syndromes in a family with Xq27.3-q28 deletion that involves FMR1 and IDS genes
Autor:
Aguilera-Albesa, S., Mosquera-Gorostidi, A., Naberan-Mardaras, I., Gorria-Redondo, N., Urriza-Ripa, I., Yoldi-Petri, M.E., Ramos-Arroyo, M.A., Coll, M.J., Aznal, E., Sanchez-Valverde, F.
Publikováno v:
In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e139-e139
Autor:
Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.
Publikováno v:
In Molecular Genetics and Metabolism November 2014 113(3):237-237