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: 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

المؤلفون: D. Calebiro, E.S. Grassi, M. Eszlinger, C. L. Ronchi, A. Godbole, K. Bathon, F. Guizzardi, T. de Filippis, K. Krohn, H. Jaeschke, T. Schwarzmayr, R. Bircan, H. I. Gozu, S. Sancak, M. Niedziela, T. M. Strom, M. Fassnacht, L. Persani, R. Paschke

المساهمون: D. Calebiro, E.S. Grassi, M. Eszlinger, C.L. Ronchi, A. Godbole, K. Bathon, F. Guizzardi, T. de Filippi, K. Krohn, H. Jaeschke, T. Schwarzmayr, R. Bircan, H.I. Gozu, S. Sancak, M. Niedziela, T.M. Strom, M. Fassnacht, L. Persani, R. Paschke

مصطلحات موضوعية: Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27500488; info:eu-repo/semantics/altIdentifier/wos/WOS:000382513400020; volume:126; issue:9; firstpage:3383; lastpage:3388; numberofpages:6; journal:THE JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/2434/431382Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84987792301

الإتاحة: https://doi.org/10.1172/JCI84894Test
http://hdl.handle.net/2434/431382Test

المؤلفون: FL, Fernandes-Rosa, G, Daniil, IJ, Orozco, C, Göppner, R, El Zein, V, Jain, S, Boulkroun, X, Jeunemaitre, L, Amar, H, Lefebvre, T, Schwarzmayr, TM, Strom, TJ, Jentsch, MC, Zennaro

المصدر: Yearbook of Paediatric Endocrinology ; ISSN 1662-4009

الإتاحة: https://doi.org/10.1530/ey.15.8.2Test
http://www.espeyearbook.org/ey/0015/ey0015.8-2.htmTest

المؤلفون: C. L. Ronchi, S. Herterich, I. Weigand, T. Schwarzmayr, S. Sbiera, B. Allolio, J. Honegger, S. Appenzeller, A. G. Lania, M. Reincke, D. Calebiro, A. Spada, M. Buchfelder, J. Flitsch, T. M. Strom, M. Fassnacht, E. Peverelli, G. Mantovani

المساهمون: C.L. Ronchi, E. Peverelli, S. Herterich, I. Weigand, G. Mantovani, T. Schwarzmayr, S. Sbiera, B. Allolio, J. Honegger, S. Appenzeller, A.G. Lania, M. Reincke, D. Calebiro, A. Spada, M. Buchfelder, J. Flitsch, T.M. Strom, M. Fassnacht

مصطلحات موضوعية: adenoma, adult, aged, cyclic amp-dependent protein kinase catalytic subunit, endopeptidase, endosomal sorting complexes required for transport, exome, female, gtp-binding protein alpha subunits, growth hormone-secreting pituitary adenoma, high-throughput nucleotide sequencing, human, male, middle aged, mutation, ubiquitin thiolesterase, young adult, endocrinology, diabetes and metabolism, Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26701869; info:eu-repo/semantics/altIdentifier/wos/WOS:000370876800017; volume:174; issue:3; firstpage:363; lastpage:372; numberofpages:10; journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; http://hdl.handle.net/2434/456311Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84958245883; f

الإتاحة: https://doi.org/10.1530/EJE-15-1064Test
http://hdl.handle.net/2434/456311Test

المؤلفون: R. Kopajtich, T. J. Nicholls, J. Rorbach, M. D. Metodiev, P. Freisinger, H. Mandel, A. Vanlander, R. Carrozzo, R. W. Taylor, K. Marquard, K. Murayama, T. Wieland, T. Schwarzmayr, J. A. Mayr, S. F. Pearce, C. A. Powell, A. Saada, A. Ohtake, F. Invernizzi, E. Lamantea, E. W. Sommerville, A. Pyle, P. F. Chinnery, E. Crushell, Y. Okazaki, M. Kohda, Y. Kishita, Y. Tokuzawa, Z. Assouline, M. Rio, F. Feillet, B. Mousson De Camaret, D. Chretien, A. Munnich, B. Menten, T. Sante, J. Smet, L. Rã©gal, A. Lorber, A. Khoury, M. Zeviani, T. M. Strom, T. Meitinger, E. S. Bertini, R. Van Coster, T. Klopstock, A. Rőtig, T. B. Haack, M. Minczuk, H. Prokisch, D. Ghezzi

المساهمون: R. Kopajtich, T.J. Nicholl, J. Rorbach, M.D. Metodiev, P. Freisinger, H. Mandel, A. Vanlander, D. Ghezzi, R. Carrozzo, R.W. Taylor, K. Marquard, K. Murayama, T. Wieland, T. Schwarzmayr, J.A. Mayr, S.F. Pearce, C.A. Powell, A. Saada, A. Ohtake, F. Invernizzi, E. Lamantea, E.W. Sommerville, A. Pyle, P.F. Chinnery, E. Crushell, Y. Okazaki, M. Kohda, Y. Kishita, Y. Tokuzawa, Z. Assouline, M. Rio, F. Feillet, B. Mousson De Camaret, D. Chretien, A. Munnich, B. Menten, T. Sante, J. Smet, L. Rã©gal, A. Lorber, A. Khoury, M. Zeviani, T.M. Strom, T. Meitinger, E.S. Bertini, R. Van Coster, T. Klopstock, A. Rőtig, T.B. Haack, M. Minczuk, H. Prokisch

مصطلحات موضوعية: acidosis, lactic, amino acid sequence, brain, brain disease, cardiomyopathy, hypertrophic, cell line, child, preschool, consanguinity, female, fibroblast, GTP-Binding protein, human, infant, newborn, male, molecular sequence data, mutation, pedigree, protein biosynthesi, RNA Interference, RNA, transfer, sequence alignment, protein processing, post-translational, genetic, genetics (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25434004; info:eu-repo/semantics/altIdentifier/wos/WOS:000346623100007; volume:95; issue:6; firstpage:708; lastpage:720; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523766Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919678076

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.017Test
http://hdl.handle.net/2434/523766Test

المؤلفون: Valeria Tiranti, Tobias B. Haack, M. Hartig, T Schwarzmayr, Thomas Wieland, Holger Prokisch, S Cuno, P Horgath, L Sanford, Thomas Meitinger, T. M. Strom, S Hayflick, A Walther

المصدر: Neuropediatrics. 44

مصطلحات موضوعية: Neurodegeneration with brain iron accumulation, business.industry, Pediatrics, Perinatology and Child Health, Cancer research, Medicine, Neurology (clinical), General Medicine, business, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e0f4d484164ddeb6887998205534021cTest
https://doi.org/10.1055/s-0033-1337716Test

المؤلفون: Yepez V. A., Gusic M., Kopajtich R., Mertes C., Smith N. H., Alston C. L., Ban R., Beblo S., Berutti R., Blessing H., Ciara E., Distelmaier F., Freisinger P., Haberle J., Hayflick S. J., Hempel M., Itkis Y. S., Kishita Y., Klopstock T., Krylova T. D., Lamperti C., Lenz D., Makowski C., Mosegaard S., Muller M. F., Munoz-Pujol G., Nadel A., Ohtake A., Okazaki Y., Procopio E., Schwarzmayr T., Smet J., Staufner C., Stenton S. L., Strom T. M., Terrile C., Tort F., Van Coster R., Vanlander A., Wagner M., Xu M., Fang F., Ghezzi D., Mayr J. A., Piekutowska-Abramczuk D., Ribes A., Rotig A., Taylor R. W., Wortmann S. B., Murayama K., Meitinger T., Gagneur J., Prokisch H.

المساهمون: V.A. Yepez, M. Gusic, R. Kopajtich, C. Merte, N.H. Smith, C.L. Alston, R. Ban, S. Beblo, R. Berutti, H. Blessing, E. Ciara, F. Distelmaier, P. Freisinger, J. Haberle, S.J. Hayflick, M. Hempel, Y.S. Itki, Y. Kishita, T. Klopstock, T.D. Krylova, C. Lamperti, D. Lenz, C. Makowski, S. Mosegaard, M.F. Muller, G. Munoz-Pujol, A. Nadel, A. Ohtake, Y. Okazaki, E. Procopio, T. Schwarzmayr, J. Smet, C. Staufner, S.L. Stenton, T.M. Strom, C. Terrile, F. Tort, R. Van Coster, A. Vanlander, M. Wagner, M. Xu, F. Fang, D. Ghezzi, J.A. Mayr, D. Piekutowska-Abramczuk, A. Ribe, A. Rotig, R.W. Taylor, S.B. Wortmann, K. Murayama, T. Meitinger, J. Gagneur, H. Prokisch

مصطلحات موضوعية: Genetic diagnostic, Mendelian disease, RNA-seq, Allele, Human, Sequence Analysis, RNA, Whole Exome Sequencing, Transcriptome, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35379322; info:eu-repo/semantics/altIdentifier/wos/WOS:000778002100001; volume:14; issue:1; firstpage:1; lastpage:26; numberofpages:26; journal:GENOME MEDICINE; https://hdl.handle.net/2434/926220Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470335

الإتاحة: https://doi.org/10.1186/s13073-022-01019-9Test
https://hdl.handle.net/2434/926220Test

المؤلفون: Ronchi, Cristina L., Di Dalmazi, Guido, Faillot, Simon, Sbiera, Silviu, Assié, Guillaume, Weigand, Isabel, CALEBIRO, DAVIDE, Schwarzmayr, Thomas, Appenzeller, Silke, Rubin, Beatrice, Waldmann, Jens, Scaroni, Carla, Bartsch, Detlef K., Mantero, Franco, Mannelli, Massimo, Kastelan, Darko, Chiodini, Iacopo, Bertherat, Jerome, Reincke, Martin, Strom, Tim M., Fassnacht, Martin, Beuschlein, Felix

المساهمون: C.L. Ronchi, G. Di Dalmazi, S. Faillot, S. Sbiera, G. Assié, I. Weigand, D. Calebiro, T. Schwarzmayr, S. Appenzeller, B. Rubin, J. Waldmann, C. Scaroni, D.K. Bartsch, F. Mantero, M. Mannelli, D. Kastelan, I. Chiodini, J. Bertherat, M. Reincke, T.M. Strom, M. Fassnacht, F. Beuschlein

مصطلحات موضوعية: Adrenal Cortex Neoplasm, Adrenocortical Adenoma, Adult, Aged, Biomarkers, Tumor, Cyclic AMP-Dependent Protein Kinase Catalytic Subunit, Exome, Female, Follow-Up Studie, High-Throughput Nucleotide Sequencing, Human, Male, Middle Aged, Mutation, Endocrinology, Diabetes and Metabolism, Biochemistry, Clinical Biochemistry, Biochemistry (medical), Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27389594; info:eu-repo/semantics/altIdentifier/wos/WOS:000390849100039; volume:101; issue:9; firstpage:3526; lastpage:3538; numberofpages:13; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; http://hdl.handle.net/2434/616047Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84988956691

الإتاحة: https://doi.org/10.1210/jc.2016-1586Test
http://hdl.handle.net/2434/616047Test