المؤلفون: D. Ghezzi, F. Sauro, A. Columbu, C. Carbone, P.-Y. Hong, F. Vergara, J. De Waele, M. Cappelletti

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/e159647dc53e4fc68603589d26bdcef6Test

المؤلفون: A. Legati, D. Ghezzi

المصدر: Current Neurology and Neuroscience Reports. 23:131-147

مصطلحات موضوعية: General Neuroscience, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc6d01f9fbf4804227778afdbadb3911Test
https://doi.org/10.1007/s11910-023-01260-8Test

المؤلفون: F. Bruni, I. Di Meo, E. Bellacchio, B. D. Webb, R. Mcfarland, Z. M. A. Chrzanowska-Lightowlers, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P. E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R. W. Taylor, D. Diodato

المساهمون: F. Bruni, I. Di Meo, E. Bellacchio, B.D. Webb, R. Mcfarland, Z.M.A. Chrzanowska-Lightowler, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P.E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R.W. Taylor, D. Diodato

مصطلحات موضوعية: Cardioencephalomyopathy, Mitochondrial disorder, OXPHOS, VARS2, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29314548; info:eu-repo/semantics/altIdentifier/wos/WOS:000426727800009; volume:39; issue:4; firstpage:563; lastpage:578; numberofpages:16; journal:HUMAN MUTATION; http://hdl.handle.net/2434/552120Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041668846

الإتاحة: https://doi.org/10.1002/humu.23398Test
http://hdl.handle.net/2434/552120Test

المؤلفون: F. Invernizzi, G. Zorzi, A. Legati, G. Coppola, P. D'Adamo, N. Nardocci, B. Garavaglia, D. Ghezzi

المساهمون: F. Invernizzi, G. Zorzi, A. Legati, G. Coppola, P. D'Adamo, N. Nardocci, B. Garavaglia, D. Ghezzi

مصطلحات موضوعية: Benign hereditary chorea, Brain-lung-thyroid syndrome, MBIP, NKX2-1, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29621620; info:eu-repo/semantics/altIdentifier/wos/WOS:000444004900002; volume:61; issue:10; firstpage:581; lastpage:584; numberofpages:4; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/585776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045114001

الإتاحة: https://doi.org/10.1016/j.ejmg.2018.03.011Test
http://hdl.handle.net/2434/585776Test

المؤلفون: Bugiardini, Enrico, Poole, Olivia V, Manole, Andreea, Pittman, Alan M, Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E, Sweeney, Mary G, Holton, Janice L, Taanman, Jan-willem, Plant, Gordon T, Poulton, Joanna, Zeviani, Massimo, D. Ghezzi, Taylor, John, Smith, Conrad, Fratter, Carl, Kanikannan, Meena A, Paramasivam, Arumugam, Thangaraj, Kumarasamy, Spinazzola, Antonella, Holt, Ian J, Houlden, Henry, Hanna, Michael G, Pitceathly, Robert D. S.

المساهمون: E. Bugiardini, O.V. Poole, A. Manole, A.M. Pittman, A. Horga, I. Hargreave, C.E. Woodward, M.G. Sweeney, J.L. Holton, J. Taanman, G.T. Plant, J. Poulton, M. Zeviani, D. Ghezzi, J. Taylor, C. Smith, C. Fratter, M.A. Kanikannan, A. Paramasivam, K. Thangaraj, A. Spinazzola, I.J. Holt, H. Houlden, M.G. Hanna, R.D.S. Pitceathly

مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28508084; info:eu-repo/semantics/altIdentifier/wos/WOS:000425030300003; volume:3; issue:3; firstpage:e149; lastpage:1; numberofpages:7; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/2434/531240Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048730322

الإتاحة: https://doi.org/10.1212/NXG.0000000000000149Test
http://hdl.handle.net/2434/531240Test

المؤلفون: Mcneill, Nathan, Nasca, Alessia, Reyes, Aurelio, Lemoine, Benjamin, Cantarel, Brandi, Vanderver, Adeline, Schiffmann, Raphael, D. Ghezzi

المساهمون: M. Nathan, N. Alessia, R. Aurelio, L. Benjamin, C. Brandi, V. Adeline, S. Raphael, D. Ghezzi

مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28748214; info:eu-repo/semantics/altIdentifier/wos/WOS:000425031100002; volume:3; issue:4; firstpage:1; lastpage:7; numberofpages:7; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/2434/531244Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052668650

الإتاحة: https://doi.org/10.1212/NXG.0000000000000162Test
http://hdl.handle.net/2434/531244Test

المؤلفون: A. Nasca, T. Rizza, M. Doimo, A. Legati, A. Ciolfi, D. Diodato, C. Calderan, G. Carrara, E. Lamantea, C. Aiello, M. Di Nottia, M. Niceta, C. Lamperti, A. Ardissone, S. Bianchi Marzoli, G. Iarossi, E. Bertini, I. Moroni, M. Tartaglia, L. Salviati, R. Carrozzo, D. Ghezzi

المساهمون: A. Nasca, T. Rizza, M. Doimo, A. Legati, A. Ciolfi, D. Diodato, C. Calderan, G. Carrara, E. Lamantea, C. Aiello, M. Di Nottia, M. Niceta, C. Lamperti, A. Ardissone, S. Bianchi Marzoli, G. Iarossi, E. Bertini, I. Moroni, M. Tartaglia, L. Salviati, R. Carrozzo, D. Ghezzi

مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Medicine (all), Genetics (clinical), Pharmacology (medical), Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28494813; info:eu-repo/semantics/altIdentifier/wos/WOS:000401180700002; volume:12; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/523688Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242

الإتاحة: https://doi.org/10.1186/s13023-017-0641-1Test
http://hdl.handle.net/2434/523688Test

المؤلفون: L. S. Kremer, D. M. Bader, C. Mertes, R. Kopajtich, G. Pichler, A. Iuso, T. B. Haack, E. Graf, T. Schwarzmayr, C. Terrile, E. Koňaříková, B. Repp, G. Kastenmüller, J. Adamski, P. Lichtner, C. Leonhardt, B. Funalot, A. Donati, V. Tiranti, A. Lombes, C. Jardel, D. Gläser, R. W. Taylor, J. A. Mayr, A. Rötig, P. Freisinger, F. Distelmaier, T. M. Strom, T. Meitinger, J. Gagneur, H. Prokisch, D. Ghezzi

المساهمون: L.S. Kremer, D.M. Bader, C. Merte, R. Kopajtich, G. Pichler, A. Iuso, T.B. Haack, E. Graf, T. Schwarzmayr, C. Terrile, E. Koňaříková, B. Repp, G. Kastenmüller, J. Adamski, P. Lichtner, C. Leonhardt, B. Funalot, A. Donati, V. Tiranti, A. Lombe, C. Jardel, D. Gläser, R.W. Taylor, D. Ghezzi, J.A. Mayr, A. Rötig, P. Freisinger, F. Distelmaier, T.M. Strom, T. Meitinger, J. Gagneur, H. Prokisch

مصطلحات موضوعية: Chemistry (all), Biochemistry, Genetics and Molecular Biology (all), Physics and Astronomy (all), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28604674; info:eu-repo/semantics/altIdentifier/wos/WOS:000403069900001; volume:8; firstpage:1; lastpage:11; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/2434/523720Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020697287

الإتاحة: https://doi.org/10.1038/ncomms15824Test
http://hdl.handle.net/2434/523720Test

المؤلفون: G. M. MARTÍNEZ, V. H. SUÁREZ, M. D. GHEZZI

المصدر: RIA: Revista Investigaciones Agropecuarias, Vol 42, Iss 2, Pp 153-160 (2016)

مصطلحات موضوعية: indicadores, bienestar animal, rodeo lechero, productividad, Agriculture, Agriculture (General), S1-972

وصف الملف: electronic resource

العلاقة: http://www.redalyc.org/articulo.oa?id=86447075008Test; https://doaj.org/toc/0325-8718Test; https://doaj.org/toc/1669-2314Test

الوصول الحر: https://doaj.org/article/4807cdcfabab418ab3241319cdb5158cTest

المؤلفون: R. K. J. Olsen, E. KoåˆaåTMã­kovã¡, T. A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T. B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rios, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P. F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R. G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T. M. Strom, N. Gregersen, J. A. Mayr, R. Horvath, M. Barile, H. Prokisch

المساهمون: R.K.J. Olsen, E. KoåˆaåTMã­kovã¡, T.A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T.B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rio, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P.F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R.G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T.M. Strom, N. Gregersen, J.A. Mayr, R. Horvath, M. Barile, H. Prokisch

مصطلحات موضوعية: adult, blotting, western, case-control studie, cells, cultured, electron transport, female, fibroblast, flavin-adenine dinucleotide, frameshift mutation, gene expression profiling, human, infant, newborn, liver, male, mitochondrial disease, multiple acyl coenzyme a dehydrogenase deficiency, muscle, skeletal, mutagenesis, site-directed, nucleotidyltransferase, protein binding, rna, messenger, real-time polymerase chain reaction, reverse transcriptase polymerase chain reaction, riboflavin

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27259049; info:eu-repo/semantics/altIdentifier/wos/WOS:000377286000008; volume:98; issue:6; firstpage:1130; lastpage:1145; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971568098

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.04.006Test
http://hdl.handle.net/2434/523684Test