المؤلفون: P. Kotnik, K. Poločková, S. Bertok, H.C. Duba, Ľ. Košťálová, R. Bertalan, M. Čizmárová, Z. Pribilincova, László Kovács, Denisa Ilencikova, Katarina Hlinkova, Anna Hlavatá

المصدر: Annals of Human Genetics. 80:50-62

مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Biology, RASopathy, medicine.disease_cause, medicine.disease, Genetic analysis, PTPN11, 03 medical and health sciences, 030104 developmental biology, Genotype, SOS1, medicine, Noonan syndrome, HRAS, skin and connective tissue diseases, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::06729c1131a3a664ee655a5e63bf14fa
https://doi.org/10.1111/ahg.12140

المؤلفون: W. Pumberger, Rainer Schöfl, H.C. Duba, M Kienbauer, S Kargl

المصدر: Journal of Pediatric Surgery. 50:511-514

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Cholangiopancreatography, Magnetic Resonance, Diagnosis, Differential, Pancreatitis, Chronic, medicine, Humans, Genetic Testing, Child, Genetic testing, Cholangiopancreatography, Endoscopic Retrograde, Magnetic resonance cholangiopancreatography, Hereditary pancreatitis, Endoscopic retrograde cholangiopancreatography, medicine.diagnostic_test, business.industry, Everyday activities, General surgery, Disease Management, General Medicine, medicine.disease, Surgery, Treatment Outcome, Obstructive pancreatitis, Child, Preschool, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Etiology, Pancreatitis, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3b3866c14f7c075a191fad9b43d8fa
https://doi.org/10.1016/j.jpedsurg.2014.05.016

المؤلفون: Rainer Schöfl, M Kienbauer, H.C. Duba, S Kargl, S Gerstl, W. Pumberger

المصدر: Zeitschrift für Gastroenterologie. 51

مصطلحات موضوعية: Gastroenterology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::992bf99ca35598c7f4788d8867a01d2e
https://doi.org/10.1055/s-0033-1347398

المؤلفون: P.A. Voûte, D. Baudry, C.L. Keck-Waggoner, K. White, P.I. Patel, J.C. McHale, M. Busson-Leconiat, M. Pagano, C. Wiesmeijer, G.W. Conrad, M. Pettenati, P. Staeheli, E.R. Zabarovsky, C. Tiziana Storlazzi, Y. Xie, Z.E. Zehner, E. Gabrielson, C.A. Griffin, C. Geffrotin, E.A. Isakova, P. Spencer, J.E. Hewitt, A. Barbon, E. Sonnhammer, R.M. Schmid, B. Kazmierczak, P. Munclinger, F. Vitelli, N.A. Serdyukova, S.W. Scherer, B.G. Beatty, S. Meloche, M. Schmid, Y. Nakajima, M. Riemann, B. Brintnell, J. Laborda, N. Zijlstra, P.M. Brickell, L.A. James, J. Pellerin, T.K. Kwon, K. Yamakawa, P. van Tuinen, B.S. Klein, H.-J. Han, H. Winton, S.H. Elsea, D. Frynta, Y. Nakamura, M. Guttenbach, L. Carim, V.G. Malikov, M. van Geel, J.C.T. van Deutekom, U. Zechner, S. Barlati, P.A. Kroner, C.N. Vlangos, R. Podowski, N.C. Popescu, M.N. Meyer, I. Kärkkäinen, Ian Dunham, L. Leikepová, S. Beck, M. Escarceller, S. Bonné, F. Favara, S. Fineschi, F. Van Roy, J. Zima, E.S. Tasheva, T.P. Lushnikova, H.C. Duba, A.L. Hawkins, R. Berger, S. Sanders, J.M. Varley, Y. Furukawa, A.V. Polyakov, A. Protopopov, E.R. Werner, R.J.L.F. Lemmers, N. Andreu, A. van Staalduinen, J. Piálek, P.J. de Jong, E. Gubina, P.L. Perelman, L. Sumoy, M. Iizaka, A. Renieri, M. Loda, S. Ferraboli, C. Wahlestedt, M.H. Hofker, K. Vehse, H.M. Cann, C.F. Inglehearn, Lidia Larizza, P. Adamson, M.D. Torres, P. Benda, J. van Hengel, I. Meloni, E. Aikawa, H. Himmelbauer, M.A. Alvarez Soria, O.V. Sablina, E.E. Tarttelin, J. Justesen, R. Gizatullin, M.N. Ahmed, R. Karhu, Andries Westerveld, R.R. Frants, Mariano Rocchi, Cécile Jeanpierre, A. Marquardt, H. Hayes, S. Behrends, M. Erdel, P. Das, D.J Haile, J. Sádlová, R. Godbout, H. Markholst, N.V. Vorobieva, V.A. Trifonov, A.S. Graphodatsky, M. Ogawa, B.H.F. Weber, D.S. Chiaur, A. Duval, Marja Steenman, I. Nanda, C. Von Kap-Her, C. Cenciarelli, Marcel M.A.M. Mannens, K. Imai, W. Parks, T. Ueda, L. Hornum, H. Scholz, H. Akashi, D.L. Kruitbosch, W. Bradford, V. Kashuba, G. Inghirami, A.B. McKie, H. Hameister, K. Gopalbhai, Y. Hey, M.J. Ruiz-Hidalgo, S.S. Thorgeirsson, L.L. Hansen, D.B. Zimonjic, G.W. Padberg, A.J. Mungall, X. Estivill, J. Bullerdiek, D. Demetrick, G. Frelat, M.B. Qumsiyeh, G. Werner-Felmayer, I. Leverkoehne, S. Ganesh, S. Halford, K.-R. Kim, J. Greenwood, N. Kanda, C. Le Chalony, M.C. Dickson, H. Stöhr, J. Trowsdale, K. Amano, R. Hamelin, S. Sugano, S. Liptay, K. Sakamaki, A.-P.J. Huovila, A. Ziegler, A.D. Gruber, G. Zhao, S. Nagata, L. Zhu, V. Baladrón, P.M. Borodin, S. Murthy, D.M. Hunt, M. Meyer

المصدر: Cytogenetic and Genome Research. 88:337-339

مصطلحات موضوعية: Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::659295b074d9fc4bfd4382ff1dade74e
https://doi.org/10.1159/000015526

المؤلفون: P.A. Voûte, S. Sugano, J.C.T. van Deutekom, L. Leikepová, Y. Hey, N. Zijlstra, M. Escarceller, A. Ziegler, D. Demetrick, H.-J. Han, R. Berger, D. Frynta, M. Loda, S. Ferraboli, Cécile Jeanpierre, H. Winton, H.C. Duba, A.L. Hawkins, N. Andreu, P.J. de Jong, N.C. Popescu, M.N. Meyer, T.K. Kwon, M.J. Ruiz-Hidalgo, M. Erdel, R. Godbout, N.V. Vorobieva, A. Renieri, S. Nagata, L. Zhu, T. Ueda, G. Zhao, F. Vitelli, N.A. Serdyukova, X. Estivill, S. Bonné, E.R. Werner, Lidia Larizza, I. Kärkkäinen, J. Bullerdiek, K. Vehse, P. Das, U. Zechner, J. Greenwood, B.H.F. Weber, A. Duval, M. Ogawa, P.I. Patel, M. Busson-Leconiat, I. Nanda, C. Von Kap-Her, P. Staeheli, Y. Xie, D.B. Zimonjic, S. Murthy, C. Cenciarelli, H. Hameister, K. White, S. Beck, N. Kanda, L. Sumoy, S. Fineschi, L. Hornum, K. Gopalbhai, K.-R. Kim, C. Le Chalony, A.J. Mungall, E. Aikawa, D. Baudry, G.W. Padberg, G. Frelat, C. Wahlestedt, A.S. Graphodatsky, M.C. Dickson, P. van Tuinen, J.M. Varley, J.E. Hewitt, H. Stöhr, O.V. Sablina, Marcel M.A.M. Mannens, K. Imai, H. Akashi, C. Wiesmeijer, M.N. Ahmed, Ian Dunham, P.L. Perelman, M. Pettenati, S.W. Scherer, W. Parks, E. Sonnhammer, Andries Westerveld, M.B. Qumsiyeh, G. Werner-Felmayer, Z.E. Zehner, J. Pellerin, S. Ganesh, A. Barbon, A.V. Polyakov, P. Munclinger, S. Halford, V. Baladrón, P.M. Borodin, E. Gubina, D.L. Kruitbosch, W. Bradford, M. van Geel, J. Sádlová, R. Podowski, S. Liptay, E. Gabrielson, V. Kashuba, D.M. Hunt, J. Trowsdale, I. Leverkoehne, P.M. Brickell, K. Amano, M. Meyer, M. Riemann, L.A. James, Y. Furukawa, G. Inghirami, A.B. McKie, Mariano Rocchi, J. Justesen, R. Hamelin, A.D. Gruber, R.M. Schmid, B.G. Beatty, D.S. Chiaur, Marja Steenman, G.W. Conrad, B. Kazmierczak, S. Meloche, M. Schmid, Y. Nakajima, H. Scholz, K. Sakamaki, A.-P.J. Huovila, C.L. Keck-Waggoner, M. Guttenbach, A. Protopopov, A. Marquardt, H. Hayes, C.N. Vlangos, D.J Haile, R.J.L.F. Lemmers, S. Barlati, H.M. Cann, C.F. Inglehearn, Y. Nakamura, E.S. Tasheva, J. Zima, E.R. Zabarovsky, C.A. Griffin, J.C. McHale, M. Pagano, J. Laborda, P. Spencer, M.D. Torres, P. Benda, J. van Hengel, I. Meloni, F. Van Roy, E.E. Tarttelin, B. Brintnell, S.S. Thorgeirsson, L.L. Hansen, F. Favara, S. Sanders, J. Piálek, H. Markholst, V.A. Trifonov, R. Karhu, S. Behrends, M.A. Alvarez Soria, T.P. Lushnikova, M. Iizaka, M.H. Hofker, L. Carim, C. Tiziana Storlazzi, C. Geffrotin, E.A. Isakova, H. Himmelbauer, R. Gizatullin, K. Yamakawa, V.G. Malikov, R.R. Frants, A. van Staalduinen, P. Adamson, B.S. Klein, S.H. Elsea, P.A. Kroner

المصدر: Cytogenetic and Genome Research. 88:171-172

مصطلحات موضوعية: Evolutionary biology, Genetics, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a4c5255e5fb425b1e5390c71a442fe42
https://doi.org/10.1159/000015543

المؤلفون: D.B. Zimonjic, F. Vitelli, J. Trowsdale, K. Amano, N.A. Serdyukova, P. Munclinger, D. Frynta, I. Kärkkäinen, K. White, P. van Tuinen, R. Hamelin, G.W. Padberg, N.C. Popescu, M.N. Meyer, R.R. Frants, X. Estivill, Mariano Rocchi, K. Sakamaki, A.-P.J. Huovila, E. Gabrielson, H. Scholz, P.A. Voûte, M. Riemann, J. Bullerdiek, B. Kazmierczak, C.A. Griffin, G. Frelat, D.L. Kruitbosch, C.L. Keck-Waggoner, L.A. James, A. van Staalduinen, W. Bradford, H. Akashi, P. Staeheli, Y. Xie, P. Adamson, G. Inghirami, T.K. Kwon, J.M. Varley, A.B. McKie, J.C. McHale, M. Pagano, J.C.T. van Deutekom, S. Sugano, S. Beck, S. Fineschi, J. Sádlová, D. Baudry, I. Leverkoehne, B.H.F. Weber, S. Bonné, K. Vehse, A.J. Mungall, B.S. Klein, S.H. Elsea, E.R. Werner, Lidia Larizza, A. Ziegler, I. Dunham, P. Das, L. Leikepová, M.B. Qumsiyeh, G. Werner-Felmayer, S. Ganesh, M. Ogawa, A. Duval, I. Nanda, C. Von Kap-Her, C. Cenciarelli, J.E. Hewitt, J. Laborda, P.A. Kroner, S. Barlati, V. Kashuba, M. Escarceller, S. Halford, Y. Nakamura, M. Iizaka, M.H. Hofker, E. Sonnhammer, A.S. Graphodatsky, Y. Hey, G.W. Conrad, E.R. Zabarovsky, P. Spencer, R. Berger, E.S. Tasheva, D.M. Hunt, G. Zhao, F. Van Roy, A. Protopopov, R.J.L.F. Lemmers, F. Favara, M. Meyer, P.J. de Jong, H.M. Cann, C.F. Inglehearn, A. Renieri, P.M. Brickell, K. Yamakawa, M.J. Ruiz-Hidalgo, L. Hornum, N. Zijlstra, S.S. Thorgeirsson, A.V. Polyakov, S.W. Scherer, L.L. Hansen, M.D. Torres, P. Benda, J. van Hengel, I. Meloni, T. Ueda, V.G. Malikov, H.-J. Han, S. Nagata, J. Pellerin, E. Gubina, U. Zechner, L. Zhu, B. Brintnell, M.N. Ahmed, Andries Westerveld, H. Hameister, K.-R. Kim, R.M. Schmid, S. Liptay, E.E. Tarttelin, B.G. Beatty, K. Gopalbhai, S. Meloche, M. Schmid, L. Sumoy, A.D. Gruber, V. Baladrón, P.M. Borodin, C. Wiesmeijer, L. Carim, C. Wahlestedt, M. Pettenati, R. Podowski, A. Marquardt, H. Hayes, D.J Haile, E. Aikawa, Z.E. Zehner, S. Sanders, Y. Furukawa, O.V. Sablina, J. Piálek, A. Barbon, J. Justesen, P.L. Perelman, M.A. Alvarez Soria, Marcel M.A.M. Mannens, Y. Nakajima, K. Imai, S. Murthy, D.S. Chiaur, Marja Steenman, W. Parks, C. Tiziana Storlazzi, M. Guttenbach, C. Geffrotin, E.A. Isakova, C.N. Vlangos, M. Loda, S. Ferraboli, J. Zima, Cécile Jeanpierre, M. Erdel, R. Godbout, N.V. Vorobieva, T.P. Lushnikova, H. Himmelbauer, R. Gizatullin, M. van Geel, H. Winton, P.I. Patel, M. Busson-Leconiat, H.C. Duba, A.L. Hawkins, N. Andreu, J. Greenwood, N. Kanda, C. Le Chalony, M.C. Dickson, H. Stöhr, D. Demetrick, R. Karhu, S. Behrends, H. Markholst, V.A. Trifonov

المصدر: Cytogenetic and Genome Research. 88:335-336

مصطلحات موضوعية: Genetics, Index (economics), Subject (documents), Biology, Social science, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f89ec0aeaa20cba0c47d7f484414ca53
https://doi.org/10.1159/000015525