-
1دورية أكاديمية
المؤلفون: Sengler C, Gellermann J, Hennermann J, Keitzer R
المصدر: Pediatric Rheumatology Online Journal, Vol 6, Iss Suppl 1, p P246 (2008)
مصطلحات موضوعية: Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1546-0096Test
-
2دورية أكاديمية
المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ
المصدر: Orphanet journal of rare diseases. 15(1):3
مصطلحات موضوعية: Medicin och hälsovetenskap
-
3دورية أكاديمية
المؤلفون: Villarrubia, J., Wasserstein, M., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Hennermann, J. B., Hollak, C., Ikezoe, T., Lachmann, R., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Thurberg, B. L., Yarramaneni, A., Rawlings, A. M., Kim, Y., Kumar, M.
المصدر: HemaSphere ; volume 6, page 2183-2184 ; ISSN 2572-9241
-
4دورية أكاديمية
المؤلفون: Heard, JM, Bellettato, C, Lingen, C, Scarpa, M, Debray, FG, Nassogne, MC, van Coster, R, De Meirleir, L, Eyskens, F, Morava, E, Baric, I, Kozich, V, Lund, AM, Germain, D, Belmatoug, N, Guffon, N, Labrune, P, Gouya, L, De Lonlay, P, Schiff, M, Dobbelaere, D, Chabrol, B, Ploeckinger, U, Das, AM, Spiekerkoetter, U, Rutsch, F, Mohnike, K, Hahn, A, Kolker, S, Ullrich, K, Hennermann, J, Balogh, I, Bembi, B, Donati, MA, Gasperini, S, Parenti, G, Salviati, A, Vici, CD, Di Rocco, M, Cefalo, G, Burlina, A, Ceccarini, G, Federico, A, Van der Ploeg, A, Rubio-Gozalbo, ME, Van Spronsen, F, Visser, G, Bosch, A, Tangeraas, T, Sanderberg, S, Kiec-Wilk, B, Gaspar, AMSM, Martins, E, Silva, EMFR, Matos, LMDFD, Azevedo, O, Tansek, MZ, Couce-Pico, ML, Cazorla, AG, Azuara, LAE, Del Toro-Riera, M, Silva, MTG, Lajic, S, Darin, N, Deegan, P, Vijay, S, Chronopolou, E, Jones, S, Chakrapani, A, Hiwot, T
المصدر: Orphanet journal of rare diseases. 14(1):119
مصطلحات موضوعية: Medicin och hälsovetenskap
-
5دورية أكاديمية
المؤلفون: Ottenberger, A., Mütze, U., Gleich, F., Maier, E. M., Lindner, M., Husain, R. A., Palm, K., Beblo, S., Freisinger, P., Santer, R., Thimm, E., Dahl, S. vom, Roloff, S., Grohmann-Held, K., Haase, C., Hennermann, J. B., Hörbe-Blindt, A., Kamrath, C., Marquardt, I., Marquardt, T.
المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p
مصطلحات موضوعية: NEWBORN screening, MITOCHONDRIAL proteins, SURVIVAL rate, CARDIOMYOPATHIES, MUSCLE diseases
-
6دورية أكاديمية
المؤلفون: Guffon, N, Tylki-Szymanska, A, Borgwardt, L, Lund, A M, Gil-Campos, M, Parini, R, Hennermann, J B
مصطلحات موضوعية: Algorithm, Alpha-mannosidosis, Diagnosis, Lysosomal storage disorder, Symptoms, Adolescent, Adult, Age Factors, Algorithms, Child, Preschool, Consensus, Disease Progression, Humans, Internationality, Middle Aged, Young Adult
العلاقة: http://hdl.handle.net/10668/13604Test; https://doi.org/10.1016Test/j.ymgme.2019.01.024
الإتاحة: https://doi.org/10.1016Test/j.ymgme.2019.01.024
http://hdl.handle.net/10668/13604Test -
7دورية أكاديمية
المؤلفون: Ditters I. A. M., Huidekoper H. H., Kruijshaar M. E., Rizopoulos D., Hahn A., Mongini T. E., Labarthe F., Tardieu M., Chabrol B., Brassier A., Parini R., Parenti G., van der Beek N. A. M. E., van der Ploeg A. T., van den Hout J. M. P., Mengel E., Hennermann J., Smitka M., Muschol N., Marquardt T., Marquardt M., Thiels C., Spada M., Pagliardini V., Menni F., della Casa R., Deodato F., Gasperini S., Burlina A., Donati A., Pichard S., Feillet F., Huet F., Mention K., Eyer D., Kuster A., Espil Taris C., Lefranc J., Barth M., Bruel H., Chevret L., Pitelet G., Pitelet C., Rivier F., Dobbelaere D.
المساهمون: Ditters I.A.M., Huidekoper H.H., Kruijshaar M.E., Rizopoulos D., Hahn A., Mongini T.E., Labarthe F., Tardieu M., Chabrol B., Brassier A., Parini R., Parenti G., van der Beek N.A.M.E., van der Ploeg A.T., van den Hout J.M.P., Mengel E., Hennermann J., Smitka M., Muschol N., Marquardt T., Marquardt M., Thiels C., Spada M., Pagliardini V., Menni F., della Casa R., Deodato F., Gasperini S., Burlina A., Donati A., Pichard S., Feillet F., Huet F., Mention K., Eyer D., Kuster A., Espil Taris C., Lefranc J., Barth M., Bruel H., Chevret L., Pitelet G., Pitelet C., Rivier F., Dobbelaere D.
مصطلحات موضوعية: Cardiomyopathy, Hypertrophic, Europe, Human, Infant, Walking, alpha-Glucosidase, Dose-Response Relationship, Drug, Enzyme Replacement Therapy, Glycogen Storage Disease Type II
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34822769; volume:6; issue:1; firstpage:28; lastpage:37; numberofpages:10; journal:THE LANCET CHILD & ADOLESCENT HEALTH; http://hdl.handle.net/2318/1858771Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121122562
الإتاحة: https://doi.org/10.1016/S2352-4642Test(21)00308-4
http://hdl.handle.net/2318/1858771Test -
8دورية أكاديمية
المؤلفون: Lenders, M., Oder, D., Nowak, A., Canaan‐Kühl, S., Arash‐Kaps, L., Drechsler, C., Schmitz, B., Nordbeck, P., Hennermann, J. B., Kampmann, C., Reuter, S., Brand, S.‐M., Wanner, C., Brand, E.
المصدر: Journal of Internal Medicine ; volume 282, issue 3, page 241-253 ; ISSN 0954-6820 1365-2796
-
9دورية أكاديمية
المؤلفون: Diaz-Manera J., Kishnani P. S., Kushlaf H., Ladha S., Mozaffar T., Straub V., Toscano A., van der Ploeg A. T., Berger K. I., Clemens P. R., Chien Y. -H., Day J. W., Illarioshkin S., Roberts M., Attarian S., Borges J. L., Bouhour F., Choi Y. C., Erdem-Ozdamar S., Goker-Alpan O., Kostera-Pruszczyk A., Haack K. A., Hug C., Huynh-Ba O., Johnson J., Thibault N., Zhou T., Dimachkie M. M., Schoser B., Behin A., Boentert M., Carvalho G., Chahin N., Charrow J., Deegan P., Durmus Tekce H., Duval F., Genge A., Gutmann L., Henderson R. D., Hennermann J. B., Hiwot T., Hughes D., Karaa A., Karam C., Kautzky-Willer A., Komaki H., Laforet P., Longo N., Malinova V., Mare R., Maxit C., Mengel E., Moggio M. G., Molnar M. J., Mongini T. E., Nadaj-Pakleza A., Nascimento Osorio A., Noury J. -B., Oliveira A. S. B., Parman Y., Pena L., Remiche G., Sciacco M., Shieh P. B., Smith C., Stulnig T., Taithe F., Tard C., Tarnopolsky M., Vorgerd M., Whitley C., Young P., Alonso-Perez J., Altemus P., Aube-Nathier A. -C., Avelar J. B., Bailey C., Bekircan-Kurt C. E., Billy J., Boschi S., Brown K. E., Carrera Garcia L., Chase L., Cirne H., Danjoux L., Davion J. -B., DeArmey S., Fedotova E., Gandolfo E., Grosz Z., Guellec D., Guettsches A. -K., Guglieri M., Hatcher E., Helms S., Hufgard-Leitner M., Klyushnikov S. A., Langton J., Linkova L., Mavroudakis N., Mazurova S., Mori M., Muller-Miny L., Musumeci O., Nance C. S., Natera-de Benito D., Neel R., Niizawa G. A., Noll L., Ortega E., Pasnoor M., Pautot V., Potulska-Chromik A., Pugliese A., Questienne C., Ramos Lopes M., Reyes-Leiva D., Riedl M., Rugiero M. F., Salort-Campana E., Sgobbi Souza P. V., Sole G., Solera L., Souto Lopes S., Specht S., Statland J., Swenson A., Tan C. Y., Tizon S., van der Beek N. A. M. E., van Kooten H. A., Wencel M., Wenninger S., Zagnoli F.
المساهمون: Diaz-Manera, J., Kishnani, P. S., Kushlaf, H., Ladha, S., Mozaffar, T., Straub, V., Toscano, A., van der Ploeg, A. T., Berger, K. I., Clemens, P. R., Chien, Y. -H., Day, J. W., Illarioshkin, S., Roberts, M., Attarian, S., Borges, J. L., Bouhour, F., Choi, Y. C., Erdem-Ozdamar, S., Goker-Alpan, O., Kostera-Pruszczyk, A., Haack, K. A., Hug, C., Huynh-Ba, O., Johnson, J., Thibault, N., Zhou, T., Dimachkie, M. M., Schoser, B., Behin, A., Boentert, M., Carvalho, G., Chahin, N., Charrow, J., Deegan, P., Durmus Tekce, H., Duval, F., Genge, A., Gutmann, L., Henderson, R. D., Hennermann, J. B., Hiwot, T., Hughes, D., Karaa, A., Karam, C., Kautzky-Willer, A., Komaki, H., Laforet, P., Longo, N., Malinova, V., Mare, R., Maxit, C., Mengel, E., Moggio, M. G., Molnar, M. J., Mongini, T. E., Nadaj-Pakleza, A., Nascimento Osorio, A., Noury, J. -B., Oliveira, A. S. B., Parman, Y., Pena, L., Remiche, G., Sciacco, M., Shieh, P. B., Smith, C., Stulnig, T., Taithe, F., Tard, C., Tarnopolsky, M., Vorgerd, M., Whitley, C., Young, P., Alonso-Perez, J., Altemus, P., Aube-Nathier, A. -C., Avelar, J. B., Bailey, C., Bekircan-Kurt, C. E., Billy, J., Boschi, S., Brown, K. E., Carrera Garcia, L., Chase, L., Cirne, H., Danjoux, L., Davion, J. -B., DeArmey, S., Fedotova, E., Gandolfo, E., Grosz, Z., Guellec, D., Guettsches, A. -K., Guglieri, M., Hatcher, E., Helms, S., Hufgard-Leitner, M., Klyushnikov, S. A., Langton, J., Linkova, L.
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34800399; info:eu-repo/semantics/altIdentifier/wos/WOS:000755602800026; volume:20; issue:12; firstpage:1012; lastpage:1026; numberofpages:15; journal:LANCET NEUROLOGY; http://hdl.handle.net/11570/3218654Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119210138
الإتاحة: https://doi.org/10.1016/S1474-4422Test(21)00241-6
http://hdl.handle.net/11570/3218654Test -
10مؤتمر
المؤلفون: Eikelberg, D., Lehmbecker, A., Brogden, G., Tongtako, W., Hahn, K., Habierski, A., Hennermann, J. B., Naim, H. Y., Felmy, F., Baumgärtner, W., Gerhauser, I.
المصدر: Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere ; 63. Jahrestagung der Fachgruppe Pathologie der Deutschen Veterinärmedizinischen Gesellschaft ; ISSN 2567-5842
النص الكامل