المؤلفون: Daniela Maria Allmer, Diego Parada Rodriguez, Christof Aigner, Franco Laccone, Mato Nagel, Sylvia Metz-Schimmerl, Gere Sunder-Plassmann

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: autosomal dominant polycystic kidney disease, PKD1, PKD2, disease progression, imaging classification of ADPKD, Mayo imaging classification, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1470309/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/4e0c897339694106b97ae9ccbff20d3a

المؤلفون: Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone, Katharina Schoner

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Tracheal agenesis, Tracheal atresia, Congenital high airway obstruction sequence (CHAOS), VACTERL association, Sirenomelia, MAPK11 variant, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a27bc7de37c240fbb01c3dfa427cba1f

المؤلفون: Helga Rehder, Susanne G. Kircher, Katharina Schoner, Mateja Smogavec, Jana Behunova, Ulrike Ihm, Margit Plassmann, Manuel Hofer, Helmut Ringl, Franco Laccone

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Diprosopus, Janiceps, Parasitic twin, CNS malformations, Holoprosencephaly, Cerebral di-symmetry, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/15ffbb36b22a48a6baa3400af8cb7237

المؤلفون: Markus Ponleitner, Daniela Maria Allmer, Manfred Hecking, Constantin Gatterer, Senta Graf, Mateja Smogavec, Franco Laccone, Paulus Stefan Rommer, Gere Sunder-Plassmann

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Alport syndrome, case report, chronic kidney disease, COL4A4, Fabry disease, GLA, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1211858/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c29a471acb98464c9f446da987eaa898

المؤلفون: Karolina Anderle, Klaus Machold, Hans P. Kiener, Daniel Bormann, Konrad Hoetzenecker, Silvana Geleff, Helmut Prosch, Franco Laccone, Peter M. Heil, Peter Petzelbauer, Daniel Aletaha, Stephan Blüml, Kastriot Kastrati

المصدر: BMC Rheumatology, Vol 6, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Dermatomyositis, Anti-MDA5, ARDS, Lung transplantation, COVID-19, Case report, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2520-1026

URL الوصول: https://doaj.org/article/e684e0ed91ff46a78fc926fab4bd8ef1

المؤلفون: Antti Tallgren, Leo Kager, Gina O’Grady, Hannu Tuominen, Jarmo Körkkö, Outi Kuismin, Martha Feucht, Callum Wilson, Jana Behunova, Eleina England, Mitja I. Kurki, Aarno Palotie, Mikko Hallman, Riitta Kaarteenaho, Franco Laccone, Kaan Boztug, Reetta Hinttala, Johanna Uusimaa

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: NHLRC2, whole exome sequencing, FINCA disease, neurodevelopmental disorder, macrocytic anemia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1123327/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/a15fd5005cc54d2da58d74123763ff5c

المؤلفون: Theresa Reischer, Franco Laccone, Gregor J. Kasprian, Gülen Yerlikaya-Schatten

المصدر: Clinics and Practice, Vol 11, Iss 1, Pp 75-80 (2021)

مصطلحات موضوعية: prenatal diagnosis, exome sequencing, twin pregnancy, Simpson-Golabi-Behmel-syndrome, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2039-7283/11/1/12; https://doaj.org/toc/2039-7283

URL الوصول: https://doaj.org/article/4694426b986c4f5688e6c2b76b4194b5

المؤلفون: Martin Koenighofer, Thomas Parzefall, Alexandra Frohne, Matthew Allen, Ursula Unterberger, Franco Laccone, Christian Schoefer, Klemens Frei, Trevor Lucas

المصدر: Clinical and Experimental Otorhinolaryngology, Vol 12, Iss 4, Pp 405-411 (2019)

مصطلحات موضوعية: Telangiectasia, Hereditary Hemorrhagic, Endoglin, Activin Receptor-Like Kinase-1, Medicine, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: http://www.e-ceo.org/upload/pdf/ceo-2019-00304.pdf; https://doaj.org/toc/1976-8710; https://doaj.org/toc/2005-0720

URL الوصول: https://doaj.org/article/2bfc308fff304b45aeaf0a5b978a2b9c

المؤلفون: Ana Soler‐Cardona, Oliver Brandau, Franco Laccone, Adrian Tanew, Sonja Radakovic

المصدر: Clinical Case Reports, Vol 7, Iss 8, Pp 1522-1525 (2019)

مصطلحات موضوعية: alopecia, cataract, genodermatosis, pigmentary disorders, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/61e0f5c8dcca46b5b1be2d795a19a344

المؤلفون: Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Connective tissue, Glycosaminoglycans, GAG Linkeropathies, B3GAT3, Genotype, Phenotype, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1110-9; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/42f243fd726149feb647940004eb423a

المؤلفون: Stephanie Springer, Eva Karner, Christof Worda, Maria Magdalena Grabner, Elisabeth Seidl-Mlczoch, Franco Laccone, Jürgen Neesen, Anke Scharrer, Barbara Ulm

المصدر: Life, Vol 12, Iss 8, p 1223 (2022)

مصطلحات موضوعية: congenital heart defect, trisomy 13, trisomy 18, trisomy 21, chromosomal abnormalities, trisomies, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/12/8/1223; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/bad7dc1d84a54981975839f1452545e8

المؤلفون: Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Juergen Neesen, Franco Laccone, Julia Eckl-Dorna, Jonathan J. Waters, Markus Schreiner, Sami Samir Amr, Emma Ashton, Christian Schoefer, Wolfgang Gstœttner, Klemens Frei, Trevor Lucas

المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2020)

مصطلحات موضوعية: TBC1D24, DFNA65, genotype-phenotype association, exome sequencing, autosomal dominant, nonsyndromic, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2020.585669/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/16015d4b45144763b1c1e2ac0e3f6326

المؤلفون: Andrzej Małecki, Janina Skipor-Lahuta, Michal Toborek, N. Joan Abbott, David A. Antonetti, Enming Joe Su, Daniel A. Lawrence, Müge Atış, Uğur Akcan, Canan Uğur Yılmaz, Nurcan Orhan, Poyraz Düzgün, Umut Deniz Ceylan, Nadir Arıcan, Serçin Karahüseyinoğlu, Gizem Nur Şahin, Bülent Ahıshalı, Mehmet Kaya, Sidar Aydin, Armelle Klopstein, Britta Engelhardt, Julia Baumann, Chih-Chieh Tsao, Sheng-Fu Huang, Omolara Ogunshola, Elizaveta B. Boytsova, Andrey V. Morgun, Elena D. Khilazheva, Elena A. Pozhilenkova, Yana V. Gorina, Galina P. Martynova, Alla B. Salmina, David Bueno, Jordi Garcia-Fernàndez, Victor Castro, Marta Skowronska, Matheus Uba Chupel, Luciele Guerra Minuzzi, Edith Filaire, Ana Maria Teixeira, Mariangela Corsi, Romain Versele, Andrea Fuso, Emmanuel Sevin, Cherubino Di Lorenzo, Rita Businaro, Laurence Fenart, Fabien Gosselet, Pietra Candela, Mária A. Deli, Conor Delaney, Eoin O’Keefe, Michael Farrell, Sarah Doyle, Matthew Campbell, Lester R. Drewes, A. Appelt-Menzel, A. Cubukova, M. Metzger, R. Fischer, David M. F. Francisco, Rémy Bruggmann, Alexa Fries, Kinga G. Blecharz, Josephin Wagner, Lars Winkler, Ulf Schneider, Peter Vajkoczy, Mikio Furuse, Lydia Gabbert, Christina Dilling, Dmitri Sisario, Vladimir Soukhoroukov, Malgorzata Burek, S. Guérit, E. Fidan, K. Devraj, C. J. Czupalla, J. Macas, S. Thom, K. H. Plate, H. Gerhardt, S. Liebner, András Harazin, Alexandra Bocsik, Judit Váradi, Ferenc Fenyvesi, Vilmos Tubak, Miklós Vecsernyés, Hans Christian Helms, Helle Sønderby Waagepetersen, Carsten Uhd Nielsen, Birger Brodin, Zsófia Hoyk, Melinda E. Tóth, Nikolett Lénárt, Brigitta Dukay, Ágnes Kittel, Judit Vígh, Szilvia Veszelka, Fruzsina Walter, Ágnes Zvara, László Puskás, Miklós Sántha, Sabrina Engelhardt, Omolara O. Ogunshola, Anna Huber, Alexander Reitner, Samar Osmen, Kathrin Hahn, Neli Bounzina, Anna Gerhartl, Anna Schönegger, Hannes Steinkellner, Franco Laccone, Winfried Neuhaus, Natalie Hudson, Lucia Celkova, Anne Iltzsche, Svetlana Drndarski, David J Begley, Mette Mathiesen Janiurek, Krzysztof Kucharz, Christina Christoffersen, Lars Bo Nielsen, Martin Lauritzen, Rebecca H Johnson, Dan T Kho, Simon J O’Carroll, Catherine E Angel, E. Scott Graham, Jennifer Pereira, Christina Simoglou Karali, Vinton Cheng, Niloufar Zarghami, Manuel Sarmiento Soto, Yvonne Couch, Daniel C. Anthony, Nicola R. Sibson, John Kealy, Richard F. Keep, Lisa J. Routhe, Jianming Xiang, Hong Ye, Ya Hua, Torben Moos, Guohua Xi, M. Kristensen, A. Bach, K. Strømgaard, Nikolay Kutuzov, Melissa A. Lopes-Pinheiro, Jamie Lim, Alwin Kamermans, Jack van Horssen, Wendy W.J. Unger, Ruud Fontijn, Helga E. de Vries, Petra Majerova, Ralph M. Garruto, Luca Marchetti, David Francisco, Isabelle Gruber, Ruth Lyck, Mária Mészáros, Gergő Porkoláb, Lóránd Kiss, Ana-Maria Pilbat, Zsolt Török, Zsolt Bozsó, Lívia Fülöp, Alena Michalicova, Jaroslav Galba, Sandra Mihaljevic, Michal Novak, Andrej Kovac, Yoichi Morofuji, Takashi Fujimoto, Daisuke Watanabe, Shinsuke Nakagawa, Kenta Ujifuku, Nobutaka Horie, Tsuyoshi Izumo, Takeo Anda, Takayuki Matsuo, Fang Niu, Shilpa Buch, Ádám Nyúl-Tóth, Mihály Kozma, Péter Nagyőszi, Krisztina Nagy, Csilla Fazakas, János Haskó, Kinga Molnár, Attila E. Farkas, Péter Galajda, Imola Wilhelm, István A. Krizbai, Eoin Kelly, Eugene Wallace, Chris Greene, Stephanie Hughes, Niamh Doyle, Marian M. Humphries, Gerald A. Grant, Alon Friedman, Ronel Veksler, Michael G. Molloy, James F. Meaney, Niall Pender, Colin P. Doherty, Minseon Park, Arkadiusz Liskiewicz, Marta Przybyla, Daniela Kasprowska-Liśkiewicz, Marta Nowacka-Chmielewska, Andrzej Malecki, Ana Pombero, Raquel Garcia-Lopez, Marta Martinez-Morga, Salvador Martinez, Ofer Prager, Lyna Solomon-Kamintsky, Karl Schoknecht, Guy Bar-Klein, Dan Milikovsky, Udi Vazana, Dror Rosenbach, Richard Kovács, Zsolt Radak, Sabela Rodríguez-Lorenzo, Remy Bruggmann, Gijs Kooij, Helga E de Vries, Semyachkina-Glushkovskaya Oxana, Bragin Denis, Vodovozova Elena, Alekseeva Anna, Salmina Alla, Salmin Vladimir, Morgun Andrey, Malinovskaya Nataliya, Khilazheva Elena, Boytsova Elizaveta, Shirokov Alexander, Navolokin Nikita, Bucharskaya Alla, Yang Yirong, Abdurashitov Arkady, Gekalyuk Artem, Ulanova Mariya, Shushunova Anastasia, Bodrova Madina, Sagatova Artem, Khorovodov Alexander, Shareef Ali Esmat, Pavlov Valery, Tuchin Artem, Kurths Jürgen, Marcelle Silva de Abreu, Ana C. Calpena, Marta Espina, Maria Luisa García, Ignacio A. Romero, David Male, Steffen Storck, Anika Hartz, Jens Pahnke, Claus U. Surma, M. Surma, Z. Giżejewski, H. Zieliński, Aleksandra Szczepkowska, Marta Kowalewska, Agata Krawczynska, Andrzej P. Herman, Janina Skipor, Nicole Kachappilly, Mike Veenstra, Rosiris Leon Rivera, Dionna W. Williams, Susan Morgello, Joan W. Berman, Ursula Wyneken, Luis Federico Batiz, Arzu Temizyürek, Rouhollah Khodadust, Mutlu Küçük, Candan Gürses, Serkan Emik, Magdalena Zielińska, Marta Obara-Michlewska, Krzysztof Milewski, Edyta Skonieczna, Inez Fręśko, Edward A. Neuwelt, Ana Raquel Santa Maria, Ana Rita Bras, Dóra Lipka, Sándor Valkai, András Kincses, András Dér, Maria A. Deli

المصدر: Fluids and Barriers of the CNS, Vol 14, Iss S2, Pp 1-23 (2017)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12987-017-0071-4; https://doaj.org/toc/2045-8118

URL الوصول: https://doaj.org/article/eebaa084b06a4ed5bbbb7e8fae457691

المؤلفون: Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone, Martha Feucht

المصدر: Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-8 (2016)

مصطلحات موضوعية: Tuberous sclerosis complex, Epilepsy, Child, mTOR, Everolimus, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-016-0530-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/cf61b879c8a34af398baa08faae78a09

المؤلفون: Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone

المصدر: Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 1-3 (2016)

مصطلحات موضوعية: Carvajal syndrome, Desmoplakin, Genetics, Sudden cardiac death, Defibrillator, Right ventricular dysplasia, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426916300386; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/70415183c8da4ac2ab52f99d3df51953

المؤلفون: Jana Boy, Thorsten Schmidt, Ulrike Schumann, Ute Grasshoff, Samy Unser, Carsten Holzmann, Ina Schmitt, Tim Karl, Franco Laccone, Hartwig Wolburg, Saleh Ibrahim, Olaf Riess

المصدر: Neurobiology of Disease, Vol 37, Iss 2, Pp 284-293 (2010)

مصطلحات موضوعية: Spinocerebellar ataxia type 3, Machado–Joseph disease, SCA3, MJD, Polyglutamine, Intranuclear inclusion bodies, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996109002204; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/34aab30ccb4b47409655bc767f1071a8

المؤلفون: Josef Finsterer, Salma Majid Wakil, Franco Laccone

المصدر: Annals of Indian Academy of Neurology, Vol 20, Iss 1, Pp 75-76 (2017)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2017;volume=20;issue=1;spage=75;epage=76;aulast=Finsterer; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/cad5dd7cf9b446a8948e518e77dfe339

المؤلفون: Michael Feichtinger, Tina Stopp, Christian Göbl, Elisabeth Feichtinger, Enrico Vaccari, Ulrike Mädel, Franco Laccone, Monika Stroh-Weigert, Markus Hengstschläger, Wilfried Feichtinger, Jürgen Neesen

المصدر: PLoS ONE, Vol 10, Iss 5, p e0128317 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4449032?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f3b4f6f8f35f4e74aa5bc6011185bd85

المؤلفون: Jasmin Schiessl-Weyer, Pedro Roa, Franco Laccone, Britta Kluge, Alexander Tichy, Euripedes De Almeida Ribeiro, Rainer Prohaska, Peter Stoeter, Claudia Siegl, Ulrich Salzer

المصدر: PLoS ONE, Vol 10, Iss 4, p e0125861 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4411072?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/79f291ee67ec4a06b87dddc00fc801ee

المؤلفون: Michael Feichtinger, Tina Stopp, Christian Göbl, Elisabeth Feichtinger, Enrico Vaccari, Ulrike Mädel, Franco Laccone, Monika Stroh-Weigert, Markus Hengstschläger, Wilfried Feichtinger, Jürgen Neesen

المصدر: PLoS ONE, Vol 10, Iss 7, p e0133334 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4503526?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/be27ccaa8a394c8a92427c7ba469d9e1