Duchenne Muscular Dystrophy

Autor: Alan E. H. Emery, Francesco Muntoni, Rosaline C. M. Quinlivan

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Mun

Meckel-Gruber Syndrome

Autor: Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, Tiina Suominen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::745442e3992df5be06f7931c99495244
https://doi.org/10.1007/978-3-540-29676-8_1114

Mosaic Lesions

Autor: Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, Tiina Suominen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::db9f47f874c6bf363738146479aafe98
https://doi.org/10.1007/978-3-540-29676-8_8772

Trisomy 8

Autor: Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, André B. P. Van Kuilenburg, Albert H. Van Gennip, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, John Wolstenholme, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a2a1179ed2fb99b0061568f2face1184
https://doi.org/10.1007/978-3-540-29676-8_1782

Menzel’s Ataxia

Autor: Mark Oette, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, Olaf Strauss, Jörg-Dieter Schulzke, Michael Fromm, Tommie V. McCarthy, Meinhard Schiller, Stephan Grabbe, Cord Sunderkötter, Gidon Almogy, Avraham I. Rivkind, Hideaki Kato, John W. Finley, Johannes Uhl, Jürgen Kopitz, Michael Cantz, Philip F. Giampietro, Inga Harting, Nicole I. Wolf, Jürgen Grabbe, Robert J. Beynon, Rosaline C. M. Quinlivan, Caroline A. Sewry, Naoto Kuroda, Cengiz Korkmaz, Anthony J. Bleyer, Thomas C. Hart, Michele Bisceglia, Carlos Galliani, Stefan Pfister, Olaf Witt, Alexander K. C. Leung, Jan Hellemans, Geert Mortier, Marcus Schmitt, Markus Pfister, Hans-Peter Zenner, Markus J. Riemenschneider, Guido Reifenberger, Julian F. B. Mercer, Sharon La Fontaine, Ingrid Moll, Bruce C. Kone, Stephan vom Dahl, Peter E. H. Schwarz, Jiang Li, Volkmar Gieselmann, David Genevieve, Martine Le Merrer, John-John B. Schnog, Victor E. A. Gerdes, Katrin Beyer, Elardus Erasmus, Lodewyk J. Mienie, Jan Bubeník, Jana Šímová, Thorsten Buch, Ansgar Schulz, Irmgard Förster, Shirley Hodgson, Holger Sudhoff, Peter J. Goadsby, Karin Jurkat-Rott, Frank Lehmann-Horn, John Logan, Bernadette McGuinness, Maria Isabel Melaragno, Marcial Francis Galera, Hardally R. Hegde, Hannu Jalanko, Maria Judit Molnar, Danae Liolitsa, Charungthai Dejthevaporn, Michael G. Hanna, Josef Finsterer, Yu-ichi Goto, Lucia K. Ma, Patrick T. S. Ma, Toshio Nishikimi, Siobhan D. Ma, Andrew Rozelle, Eliza F. Chakravarty, Stefan R. Bornstein, Sven Schinner, Marinus Duran, William Lane M. Robson, Christine Liang, Julie V. Schaffer, Claudiu Plesa, Franck E. Nicolini, Eric Sibley, Vinzenz Oji, Heiko Traupe, Damian Miles Bailey, Heimo Mairbäurl, Peter Bärtsch, Alexander A. C. Leung, Justine H. S. Fong, Michael Beck, Silke Hofmann, Leena Bruckner-Tuderman, Dieter Metze, Riikka H. Hämäläinen, Anna-Elina Lehesjoki, Marita Lipsanen-Nyman, Constantine Stratakis, Francesca Marini, Alberto Falchetti, Maria Luisa Brandi, Christian A. Koch, Constantine A. Stratakis, Michael Briggs, Wim Wuyts, Filip Vanhoenacker, Wim Hul, Hayrettin Tumani, Kurt Von Figura, Thomas Dierks, Bernhard Schmidt, Luca Busetto, Giuliano Enzi, Thomas Klockgether, Ioannis Stefanidis, Georgios M. Hadjigeorgiou, Klaus Zerres, Sabine Rudnik-Schöneborn, Hans-Jürgen Gdynia, Anne-Dorte Sperfeld, Eric P. Hoffman, Rabah Ben Yaou, Gisèle Bonne, Dominique Récan-Budiartha, Peter Hackman, Bjarne Udd, Wolfgang Dietmaier, Arndt Hartmann, Dominique Prié, Caroline Silve, Bernard Grandchamp, Gérard Friedlander, Andrew G. Engel, Werner Kempf, Reinhard Dummer, Günter Burg, Daniela Cilloni, Giuseppe Saglio, Ulrich S. Schuler, Ulrike Bacher, Claudia Haferlach, Susanne Schnittger, Torsten Haferlach, Reginald S. Sauve, Deepak Kamat, Stephen N. Makoni, Richard L. Sabina, Benjamin D. Tyrrell, Justin A. Ezekowitz, Wolfgang Schillinger, Gerd Hasenfuss, Kevin M. Bonney, David M. Engman, Thomas Klopstock, Friedrich Asmus, Thomas Gasser, Dina J. Zand, Elaine H. Zackai, Frank Schaeffel, Anders Oldfors, Niklas Darin, Tommy Martinsson, Ursula Knirsch, Gisela Stoltenburg-Didinger, Olayinka Raheem, Tiina Suominen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ef4353c58f99c1f0facc041648fc86b9
https://doi.org/10.1007/978-3-540-29676-8_6858