المؤلفون: Ljubičić, M., Sarić, M. M., Rumbak, I., Barić, I. C., Sarić, A., Komes, D., Šatalić, Z., Dželalija, B., Guiné, Raquel P. F.

المساهمون: Repositório Científico do Instituto Politécnico de Viseu

مصطلحات موضوعية: food labels reading, dietary fiber, knowledge, consumption, health benefits

وصف الملف: application/pdf

Relation: Ljubičić M, Sarić MM, Rumbak I, Barić IC, Sarić A, Komes D, Šatalić Z, Dželalija B, Guiné RPF. (2024) Is Better Knowledge about Health Benefits of Dietary Fiber Related to Food Labels Reading Habits? A Croatian Overview. In Brunetti L, Chavaroli A (Eds) Food Components in Health Promotion and Disease Prevention. Chapter 7, pp. 79-93. MDPI, Basel, Switzerland.

الاتاحة: http://hdl.handle.net/10400.19/8200

المؤلفون: Manzoni, E, Carli, S, Gaignard, P, Schlieben, LD, Hirano, M, Ronchi, D, Gonzales, E, Shimura, M, Murayama, K, Okazaki, Y, Barić, I, Petkovic Ramadza, D, Karall, D, Mayr, J, Martinelli, D, La Morgia, C, Primiano, G, Santer, R, Servidei, S, Bris, C, Cano, A, Furlan, F, Gasperini, S, Laborde, N, Nesbitt, V

Relation: https://ora.ox.ac.uk/objects/uuid:6ce3ab4b-dcef-4d85-bf6e-ef622a1cb835; https://doi.org/10.1093/braincomms/fcae160

الاتاحة: https://doi.org/10.1093/braincomms/fcae160
https://ora.ox.ac.uk/objects/uuid:6ce3ab4b-dcef-4d85-bf6e-ef622a1cb835

المؤلفون: Hammann, N., Lenz, D., Baric, I., Crushell, E., Vici, C.D., Distelmaier, F., Feillet, F., Freisinger, P., Hempel, M., Khoreva, A.L., Laass, M.W., Lacassie, Y., Lainka, E., Larson-Nath, C., Li, Z., Lipiński, P., Lurz, E., Mégarbané, A., Nobre, S., Olivieri, G., Peters, B., Prontera, P., Schlieben, L.D., Seroogy, C.M., Sobacchi, C., Suzuki, S., Tran, C., Vockley, J., Wang, J.S., Wagner, M., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Staufner, C.

المصدر: Molecular genetics and metabolism, vol. 141, no. 3, pp. 108118

مصطلحات موضوعية: Humans, Phenotype, Pelger-Huet Anomaly/complications, Pelger-Huet Anomaly/genetics, Pelger-Huet Anomaly/pathology, Liver Failure, Acute/genetics, Mutation, Missense, Neuroblastoma/complications, Genotype-phenotype correlation, ILFS2, NBAS, Recurrent acute liver failure, SOPH

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38244286; info:eu-repo/semantics/altIdentifier/eissn/1096-7206; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C34190170CCC7; https://serval.unil.ch/notice/serval:BIB_C34190170CCC; https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C34190170CCC
https://doi.org/10.1016/j.ymgme.2023.108118
https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C34190170CCC7

المؤلفون: D’Onofrio, G, Accogli, A, Severino, M, Caliskan, H, Kokotović, T, Blazekovic, A, Jercic, KG, Markovic, S, Zigman, T, Goran, K, Barišić, N, Duranovic, V, Ban, A, Borovecki, F, Ramadža, DP, Barić, I, Fazeli, W, Herkenrath, P, Marini, C, Vittorini, R, Gowda, V, Bouman, A, Rocca, C, Alkhawaja, IA, Murtaza, BN, Rehman, MMU, Al Alam, C, Nader, G, Mancardi, MM, Giacomini, T, Srivastava, S, Alvi, JR, Tomoum, H, Matricardi, S, Iacomino, M, Riva, A, Scala, M, Madia, F, Pistorio, A, Salpietro, V, Minetti, C, Rivière, JB, Srour, M, Efthymiou, S, Maroofian, R, Houlden, H, Vernes, SC, Zara, F, Striano, P, Nagy, V

المصدر: Human Genetics (2023) (In press).

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10170801/1/s00439-023-02552-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10170801/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10170801/1/s00439-023-02552-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10170801/

المؤلفون: Ljubicic M., Saric M. M., Klarin I., Rumbak I., Baric I. C., Ranilovic J., EL-Kenawy A., Papageorgiou M., Vittadini E., Bizjak M. C., Guine R.

المساهمون: Ljubicic, M., Saric, M. M., Klarin, I., Rumbak, I., Baric, I. C., Ranilovic, J., EL-Kenawy, A., Papageorgiou, M., Vittadini, E., Bizjak, M. C., Guine, R.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000790504100001; volume:91; numberofpages:11; journal:JOURNAL OF FUNCTIONAL FOODS; http://hdl.handle.net/11581/459577; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126369657; https://www.sciencedirect.com/science/article/pii/S1756464622000883?via=ihub

الاتاحة: http://hdl.handle.net/11581/459577
https://doi.org/10.1016/j.jff.2022.105018
https://www.sciencedirect.com/science/article/pii/S1756464622000883?via=ihub

المؤلفون: Parenti G., Fecarotta S., Alagia M., Attaianese F., Verde A., Tarallo A., Gragnaniello V., Ziagaki A., Guimaraes M. J., Aguiar P., Hahn A., Azevedo O., Donati M. A., Kiec-Wilk B., Scarpa M., van der Beek N. A. M. E., Del Toro Riera M., Germain D. P., Huidekoper H., van den Hout J. M. P., van der Ploeg A. T., Zeman J., Witters P., Weinhold N., Vijay S., van Hasselt P. M., Ullrich K., Tournev I., Salviati A., Rutsch F., Roland D., Rokicki D., Rodrigues E., Pfliegler G., Miclea D., Martins E., Martin-Hernandez E., Komninaka V., Kingma S., Jones S., Hiwot T. G., Hennermann J., Guffon-Fouilhoux N., Grosso S., Lopez A. G. -M., Gasperini S., Gaspar A. M., Ferreira A., Eyskens F., Dobbelaere D., Di Rocco M., De Las Heras Montero J., de Abreu Freire Diogo Matos L. M., Deegan P., Debray F. G., Das A. M., Darin N., Couce-Pico M. L., Chronopoulou E., Chabrol B., Cassiman D., Burlina A., Brassier A., Bosch A. M., Bordugo A., Belmatoug N., Batzios S., Baric I.

المساهمون: Parenti, G., Fecarotta, S., Alagia, M., Attaianese, F., Verde, A., Tarallo, A., Gragnaniello, V., Ziagaki, A., Guimaraes, M. J., Aguiar, P., Hahn, A., Azevedo, O., Donati, M. A., Kiec-Wilk, B., Scarpa, M., van der Beek, N. A. M. E., Del Toro Riera, M., Germain, D. P., Huidekoper, H., van den Hout, J. M. P., van der Ploeg, A. T., Zeman, J., Witters, P., Weinhold, N., Vijay, S., van Hasselt, P. M., Ullrich, K., Tournev, I., Salviati, A., Rutsch, F., Roland, D., Rokicki, D., Rodrigues, E., Pfliegler, G., Miclea, D., Martins, E., Martin-Hernandez, E., Komninaka, V., Kingma, S., Jones, S., Hiwot, T. G., Hennermann, J., Guffon-Fouilhoux, N., Grosso, S., Lopez, A. G. -M., Gasperini, S., Gaspar, A. M., Ferreira, A., Eyskens, F., Dobbelaere, D., Di Rocco, M., De Las Heras Montero, J., de Abreu Freire Diogo Matos, L. M., Deegan, P., Debray, F. G., Das, A. M., Darin, N., Couce-Pico, M. L., Chronopoulou, E., Chabrol, B., Cassiman, D., Burlina, A., Brassier, A., Bosch, A. M., Bordugo, A., Belmatoug, N., Batzios, S., Baric, I.

مصطلحات موضوعية: Acid alpha-glucosidase deficiency, Acid maltase deficiency, Glycogen storage disease (GSD) type II, Lysosomal storage disease, Pompe disease

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001346304100001; volume:19; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11588/989628

الاتاحة: https://hdl.handle.net/11588/989628
https://doi.org/10.1186/s13023-024-03373-w

المؤلفون: Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schroter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Muller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rotig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang J-S, Weghuber D, Wortmann S

المصدر: Genetics in Medicine, 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/287630; https://eprints.ncl.ac.uk/fulltext.aspx?url=287630/7E762CC3-7D5E-4030-91E6-BEF452582F45.pdf&pub_id=287630

الاتاحة: https://eprints.ncl.ac.uk/287630

المؤلفون: Mütze, U., Gleich, F., Barić, I., Baumgartner, M., Burlina, A., Chapman, K. A., Chien, Y., Cortès-Saladelafont, E., de Laet, C., Dobbelaere, Dries, Eysken, F., Gautschi, M., Santer, R., Häberle, J., Joaquín, C., Karall, D., Lindner, M., Lund, A. M., Mühlhausen, C., Murphy, E., Roland, D., Ruiz Gomez, A., Skouma, A., Grünert, S. C., Wagenmakers, M., Garbade, S. F., Kölker, S., Boy, N.

المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 1573-2665 ; J Inherit Metab Dis ; https://hal.univ-lille.fr/hal-04737732 ; J Inherit Metab Dis, 2022, J Inherit Metab Dis, 46, pp.220-231. ⟨10.1002/jimd.12572⟩.

مصطلحات موضوعية: coronavirus, COVID-19, E-IMD, IMD, intoxication-type inherited metabolic diseases, pandemic, SARS-CoV-2, survey, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36266255; PUBMED: 36266255

الاتاحة: https://hal.univ-lille.fr/hal-04737732
https://hal.univ-lille.fr/hal-04737732v1/document
https://hal.univ-lille.fr/hal-04737732v1/file/J%20of%20Inher%20Metab%20Disea%20-%202022%20-%20M%C3%BCtze%20-%20Impact%20of%20the%20SARS%E2%80%90CoV%E2%80%902%20pandemic%20on%20the%20health%20of%20individuals%20with.pdf
https://doi.org/10.1002/jimd.12572

المؤلفون: Vogel, GF, Mozer-Glassberg, Y, Landau, YE, Schlieben, LD, Prokisch, H, Feichtinger, RG, Mayr, JA, Brennenstuhl, H, Schröter, J, Pechlaner, A, Alkuraya, FS, Baker, JJ, Barcia, G, Baric, I, Coman, David

مصطلحات موضوعية: Medical genetics (excl. cancer genetics), Genetics, Acute liver failure, Cysteine, Liver transplantation, Mitochondrial disease, Treatment

Relation: Genetics in Medicine; Vogel, GF; Mozer-Glassberg, Y; Landau, YE; Schlieben, LD; Prokisch, H; Feichtinger, RG; Mayr, JA; Brennenstuhl, H; Schröter, J; Pechlaner, A; Alkuraya, FS; Baker, JJ; Barcia, G; Baric, I; Coman, D; et al., Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants, Genetics in Medicine, 2022; http://hdl.handle.net/10072/420157

الاتاحة: http://hdl.handle.net/10072/420157
https://doi.org/10.1016/j.gim.2022.09.015

المؤلفون: Guiné, Raquel, Leal, Marcela, Rumbak, I., Baric, I., Komes, D., Satalic, Z., Saric, M., Tarcea, M., Fazakas, Z., Jovanoska, D., Vanevski, D., Yalcin, E., Vittadini, E., Pellegrini, N., Szucs, V., Harangozo, J., El-Kenawy, A., El-Shenawy, O., yalcin, E., Kosemeci, C., Klava, D., Straumite, E.

المساهمون: Repositório Científico do Instituto Politécnico de Viseu

مصطلحات موضوعية: Cluster analysis, Dietary fibre

وصف الملف: application/pdf

Relation: Guiné, R., Leal, M., Rumkab, I., Barić, I., Komes, D., Satalić, Z., ... Straumite, E. (2019, maio). Level of information about dietary fibre: a study involving 10 Countries. In e-Resumos do XVIIII Congresso de Nutrição e Alimentação, Porto: Associação Portuguesa de Nutrição.

الاتاحة: http://hdl.handle.net/10400.19/5516

المؤلفون: Florença, Sofia G., Leal, M., Rumbak, I., Baric, I., Komes, D., Satalic, D., Saric, M., Tarcea, M., Fazakas, Z., Szucks, V., Harangozo, J., Klava, D., Straumite, E., Guiné, Raquel

المساهمون: Repositório Científico do Instituto Politécnico de Viseu

مصطلحات موضوعية: Dietary fibre, Survey

وصف الملف: application/pdf

Relation: Florença, S.G., Leal, M., Rumbak, I., Barić, I., Komes, D., Satalić, Z., ... Guiné, R. (2019, maio). Comparison of the ingestion of fibre rich foods in different countries. In e-Resumos do XVIIII Congresso de Nutrição e Alimentação, Porto: Associação Portuguesa de Nutrição.

الاتاحة: http://hdl.handle.net/10400.19/5515

المؤلفون: Peters, T.M.A., Engelke, U.F., Boer, S. de, Reintjes, J.T.G., Roullet, J.B., Broekman, S., Vrieze, E. de, WIjk, E. van, Wamelink, M.M.C., Artuch, R., Barić, I., Merx, J., Boltje, T.J., Martens, J., Willemsen, M.A.A.P., Verbeek, M.M., Wevers, R.A., Gibson, K.M., Coene, K.L.M.

المصدر: Journal of Inherited Metabolic Disease, 47, 3, pp. 417-430

مصطلحات موضوعية: Organismal Animal Physiology, Synthetic Organic Chemistry, FELIX Molecular Structure and Dynamics, Human Genetics - Radboud University Medical Center, Human Genetics - Radboud University Medical Center - DCMN, Neurology - Radboud University Medical Center, Neurology - Radboud University Medical Center - DCMN, Otorhinolaryngology - Radboud University Medical Center, Paediatrics - Radboud University Medical Center - DCMN

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/307870/307870.pdf; https://hdl.handle.net/2066/307870

الاتاحة: https://hdl.handle.net/2066/307870
https://repository.ubn.ru.nl//bitstream/handle/2066/307870/307870.pdf
https://doi.org/10.1002/jimd.12657

المؤلفون: Šikić, K., Peters, T.M.A., Engelke, U.F.H., Petković Ramadža, D., Žigman, T., Fumić, K., Davidović, M., Huljev Frković, S., Körmendy, T., Martinelli, D., Novelli, A., Lepri, F.R., Wevers, R.A., Barić, I.

المصدر: Jimd Reports, 65, 6, pp. 361-370

مصطلحات موضوعية: Human Genetics - Radboud University Medical Center - DCMN

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/313741/313741.pdf; https://hdl.handle.net/2066/313741

الاتاحة: https://hdl.handle.net/2066/313741
https://repository.ubn.ru.nl//bitstream/handle/2066/313741/313741.pdf
https://doi.org/10.1002/jmd2.12439

المؤلفون: Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgic B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaclioglu CT, Knoppke B, Kohl M, Kolbel H, Kolker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Muller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadza D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel G-F, Wagner M, Van Der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H

المصدر: Hepatology, May 2024

Relation: https://eprints.ncl.ac.uk/298135

الاتاحة: https://eprints.ncl.ac.uk/298135

المؤلفون: Brunet T, Zott B, Lieftuchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Huning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljevic M, Barisic N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Kramer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M

المصدر: Genetics in Medicine, February 2024

Relation: https://eprints.ncl.ac.uk/295926

الاتاحة: https://eprints.ncl.ac.uk/295926

المؤلفون: Brunet, T., Zott, B., Lieftüchter, V., Lenz, D., Schmidt, A., Peters, P., Kopajtich, R., Zaddach, M., Zimmermann, H., Hüning, I., Ballhausen, D., Staufner, C., Bianzano, A., Hughes, J., Taylor, R.W., McFarland, R., Devlin, A., Mihaljević, M., Barišić, N., Rohlfs, M., Wilfling, S., Sondheimer, N., Hewson, S., Marinakis, N.M., Kosma, K., Traeger-Synodinos, J., Elbracht, M., Begemann, M., Trepels-Kottek, S., Hasan, D., Scala, M., Capra, V., Zara, F., van der Ven, A.T., Driemeyer, J., Apitz, C., Krämer, J., Strong, A., Hakonarson, H., Watson, D., Mayr, J.A., Prokisch, H., Meitinger, T., Borggraefe, I., Spiegler, J., Baric, I., Paolini, M., Gerstl, L., Wagner, M.

المصدر: Genetics in medicine, vol. 26, no. 2, pp. 101013

مصطلحات موضوعية: Humans, Child, Moyamoya Disease/genetics, Leigh Disease/complications, Transcription Factors/genetics, Ubiquitin-Protein Ligases/genetics, Stroke, Zinc, Genetic Predisposition to Disease, Adenosine Triphosphatases/genetics, RNF213, exome sequencing, leigh syndrome, moyamoya

Relation: info:eu-repo/semantics/altIdentifier/pmid/37924258; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; https://serval.unil.ch/notice/serval:BIB_B19DE60BFB37

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B19DE60BFB37
https://doi.org/10.1016/j.gim.2023.101013

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, Kölker S, Weinhold N, Mohnike K, Gruenert S, Lund AM, Morales-Conejo M, Del Toro-Riera M, Aldámiz-Echevarría L, Garcia-Silva MT, Schiff M, Gouya L, de Lonlay P, Belmatoug N, Germain DP, Cano A, Dobbelaere D, Jones S, Dawson C, Deegan P, Santra S, Vijay S, Petkovic Ramadza D, Barić I, Žigman 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, Kieć-Wilk B, Mendes Gaspar AS, Quelhas D, Leao-Teles E, Azevedo O, Rodriges Silva EF, de Abreu Freire Diogo Matos LM, Martins E, Lajic S, Darin N, Groselj U, Tansek MZ.

المساهمون: 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, Kölker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, Am, Morales-Conejo, M, Del Toro-Riera, M, Aldámiz-Echevarría, L, Garcia-Silva, Mt, Schiff, M, Gouya, L, de Lonlay, P, Belmatoug, N, Germain, Dp, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Petkovic Ramadza, D, Barić, I, Žigman, 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, Kieć-Wilk, B, Mendes Gaspar, A, Quelhas, D, Leao-Teles, E, Azevedo, O, Rodriges Silva, Ef, de Abreu Freire Diogo Matos, Lm, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, Mz.

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, Orphan medicinal product

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31907071; info:eu-repo/semantics/altIdentifier/wos/WOS:000513719400001; volume:15; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11568/1022303; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952; https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5

الاتاحة: https://hdl.handle.net/11568/1022303
https://doi.org/10.1186/s13023-019-1280-5
https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5

المؤلفون: Guine R. P. F., Correia P., Leal M., Rumbak I., Baric I. C., Komes D., Satalic Z., Saric M. M., Tarcea M., Fazakas Z., Jovanoska D., Vanevski D., Vittadini E., Pellegrini N., Szucs V., Harangozo J., El-Kenawy A., El-Shenawy O., Yalcln E., Kosemeci C., Klava D., Straumite E., Ferreira M., Florenca S. G.

المساهمون: Guine, R. P. F., Correia, P., Leal, M., Rumbak, I., Baric, I. C., Komes, D., Satalic, Z., Saric, M. M., Tarcea, M., Fazakas, Z., Jovanoska, D., Vanevski, D., Vittadini, E., Pellegrini, N., Szucs, V., Harangozo, J., El-Kenawy, A., El-Shenawy, O., Yalcln, E., Kosemeci, C., Klava, D., Straumite, E., Ferreira, M., Florenca, S. G.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000582510000001; volume:5; issue:1; firstpage:593; lastpage:606; numberofpages:14; journal:OPEN AGRICULTURE; http://hdl.handle.net/11581/446310; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85095779568

الاتاحة: http://hdl.handle.net/11581/446310
https://doi.org/10.1515/opag-2020-0060
https://www.degruyter.com/document/doi/10.1515/opag-2020-0060/html

المؤلفون: Lenz, D., Pahl, J., Hauck, F., Alameer, S., Balasubramanian, M., Baric, I., Boy, N., Church, J.A., Crushell, E., Dick, A., Distelmaier, F., Gujar, J., Indolfi, G., Lurz, E., Peters, B., Schwerd, T., Serranti, D., Kölker, S., Klein, C., Hoffmann, G.F., Prokisch, H., Greil, J., Cerwenka, A., Giese, T., Staufner, C.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf; Lenz, D., Pahl, J., Hauck, F. et al. (22 more authors) (2021) NBAS variants are associated with quantitative and qualitative NK and B cell deficiency. Journal of Clinical Immunology, 41 (8). pp. 1781-1793. ISSN 0271-9142

الاتاحة: https://eprints.whiterose.ac.uk/177468/
https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf

المؤلفون: Guiné, Raquel, Correia, Paula, Klava, D., Straumite, E., Szűcs, V., Harangozó, J., Tarcea, M., Fazakas, Z., Rumbak, I., Barić, I. C., Komes, D., Satalić, Z., Sarić, M. M., Yalçın, E., Kösemeci, C., Leal, M., Jovanoska, D., Vanevski, D., Vittadini, E., Pellegrini, N., EL-Kenawy, A., EL-Shenawy, O.

المساهمون: Repositório Científico do Instituto Politécnico de Viseu

مصطلحات موضوعية: Dietary fibre, Knowledge, Sources of fibre, Survey

وصف الملف: application/pdf

Relation: Guiné, R. P. F., Correia, P., Klava, D., Straumite, E., Szűcs, V., Harangozó, J., ... EL-Shenawy, O. (2017). Factor and cluster analysis to knowledge about dietary fibre. in Evita Straumite (Ed.), "Abstract Book of 11th Baltic Conference on Food Science and Technology "FOODBALT 2017", Jelgava, Letónia, pp. 41.; 2501-0190

الاتاحة: http://hdl.handle.net/10400.19/4565