المؤلفون: Huemer, Martina^{Aff1, Aff2, Aff3}, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean^{Aff1, Aff2}, Baumgartner, Matthias R.^{Aff1, Aff2}, Dionisi-Vici, Carlo^Aff4, the EHOD consortium, Alcalde Martin, C., Baethmann, M., Ballhausen, D., Blasco-Alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K. A., Couce, M. L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M. C., García Silva, M. T., Gaspar, A. M., Gautschi, M., González-Lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, M. C. H., Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A. M., Martins, E. G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-Giner, C., Ruiz Gómez, M. A., Santra, S., Schiff, M., Schwartz, I. V., Scholl-Bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J.^{Aff8, Aff52}, Weisfeld-Adams, J.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-19

المؤلفون: Chandler, D, Angelicheva, D, Heather, L, Gooding, R, Gresham, D, Yanakiev, P, de Jonge, R, Baas, F, Dye, D, Karagyozov, L, Savov, A, Blechschmidt, K, Keats, B, Thomas, PK, King, RH, Starr, A, Nikolova, A, Colomer, J, Ishpekova, B, Tournev, I, Urtizberea, JA, Merlini, L, Butinar, D, Chabrol, B, Voit, T, Baethmann, M, Nedkova, V, Corches, A, Kalaydjieva, L

المصدر: Neuromuscular disorders : NMD. 10(8)

مصطلحات موضوعية: Humans, Disease Progression, Chromosome Mapping, Pedigree, DNA Mutational Analysis, Genotype, Haplotypes, Phenotype, Adolescent, Adult, Middle Aged, Child, Europe, Female, Male, Hereditary Sensory and Motor Neuropathy, Roma, hereditary motor and sensory neuropathy type Lom, genetic mapping, gypsy families, Neurology & Neurosurgery, Clinical Sciences, Neurosciences, Medical Physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3dj3g474

المؤلفون: Klepper, J., Santer, R., Baethmann, M., De Vivo, D.C., Voit, T.

المصدر: Monatsschrift Kinderheilkunde: Organ der Deutschen Gesellschaft für Kinderheilkunde und Jugendmedizin. 01 2000 148(1):2-11

المؤلفون: Huemer, M. Diodato, D. Martinelli, D. Olivieri, G. Blom, H. Gleich, F. Kölker, S. Kožich, V. Morris, A.A. Seifert, B. Froese, D.S. Baumgartner, M.R. Dionisi-Vici, C. Martin, C.A. Baethmann, M. Ballhausen, D. Blasco-Alonso, J. Boy, N. Bueno, M. Burgos Peláez, R. Cerone, R. Chabrol, B. Chapman, K.A. Couce, M.L. Crushell, E. Dalmau Serra, J. Diogo, L. Ficicioglu, C. García Jimenez, M.C. García Silva, M.T. Gaspar, A.M. Gautschi, M. González-Lamuño, D. Gouveia, S. Grünewald, S. Hendriksz, C. Janssen, M.C.H. Jesina, P. Koch, J. Konstantopoulou, V. Lavigne, C. Lund, A.M. Martins, E.G. Meavilla Olivas, S. Mention, K. Mochel, F. Mundy, H. Murphy, E. Paquay, S. Pedrón-Giner, C. Ruiz Gómez, M.A. Santra, S. Schiff, M. Schwartz, I.V. Scholl-Bürgi, S. Servais, A. Skouma, A. Tran, C. Vives Piñera, I. Walter, J. Weisfeld-Adams, J. the EHOD consortium

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d3eac380200a0058991330b985248b38
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087258

المؤلفون: Tacke, Moritz, Rupp, Nina, Gerstl, Lucia, Heinen, Florian, Vill, Katharina, Bonfert, Michaela, Neubauer, Bernd Axel, Bast, Thomas, Borggraefe, Ingo, Baumeister, F A M, Baethmann, M, Schreiber‐Gollwitzer, B, Bentele, K, Blank, C, Held, J, Blank, H M, Liebrich, K, Bode, H, Braun, J, Bosch, F

المصدر: Acta Neurologica Scandinavica; Dec2018, Vol. 138 Issue 6, p475-481, 7p

مصطلحات موضوعية: EPILEPSY, NEUROPSYCHOLOGY, ELECTROENCEPHALOGRAPHY, RANDOMIZED controlled trials, COGNITION

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المؤلفون: Haan, Marian, Baethmann, M., Straub, V., Reuser, A.J.J.

المساهمون: Clinical Genetics

المصدر: Pompe disease, 18-29
STARTPAGE=18;ENDPAGE=29;TITLE=Pompe disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::f5400ca50166335338a9b74a6e1712c8
https://pure.eur.nl/en/publications/4ea16af3-dfd7-4a30-baef-304ed0e0a4a1

المؤلفون: Reuser, Arnold, Baethmann, M., Straub, V., Reuser, AJJ

المساهمون: Clinical Genetics

المصدر: Pompe disease, 60-63
STARTPAGE=60;ENDPAGE=63;TITLE=Pompe disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::896e81b1f35531ad476759344af43d9a
https://pure.eur.nl/en/publications/f91628aa-9bf7-407f-8f82-b4cd44d68ec4

المؤلفون: Haan, Marian, Reuser, Arnold, Baethmann, M., Straub, V.

المساهمون: Clinical Genetics

المصدر: Morbus Pompe-Grundlagen, Diagnose und Therapie, 16-24
STARTPAGE=16;ENDPAGE=24;TITLE=Morbus Pompe-Grundlagen, Diagnose und Therapie

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::efc5eb7c7d30750105448e1b26b199bc
https://pure.eur.nl/en/publications/9af80852-db3a-47c2-8317-bed8b0b969cc

المؤلفون: Budde, Sms, Van Den Heuvel, L.p.w.j., Janssen, Aj., Smeets, R.j.p., Buskens, Caf, De Meirleir, Linda, Van Coster, Rudy, Baethmann, M., Voit, T., Trijbels, J.m.f., Smeitink, Jam.

المساهمون: Surgery Specializations, Pediatrics, Vrije Universiteit Brussel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3848::8b04c8fee915fa33192990f9e1a88e90
https://biblio.vub.ac.be/vubir/combined-enzymatic-complex-i-and-iii-deificiency-associated-with-mutations-in-the-nuclear-encodd-ndufs4-gene(340f3f36-a612-429e-bff9-22503efc55c6).html