학술논문
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'학술논문'
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Academic Journal
Rauan Kaiyrzhanov; Abolfazl Rad; Sheng‐Jia Lin; Aida M. Bertoli‐Avella; Wouter W. Kallemeijn; Annie Godwin; Maha S. Zaki; Kevin Huang; Tracy Lau; Cassidy Petree; Stéphanie Efthymiou; Ehsan Ghayoor Karimiani; Maja Hempel; Elizabeth A. Normand; Sabine Rudnik‐Schöneborn; Ulrich A. Schatz; Marc P. Baggelaar; Muhammad Ilyas; Tipu Sultan; Javeria Raza Alvi; Manizha Ganieva; Ben Fowler; Ruxandra Aanicai; Gulsen Akay Tayfun; Abdulaziz Al Saman; Abdulrahman Alswaid; Nafise Amiri; Nilufar Asilova; Vorasuk Shotelersuk; Patra Yeetong; Matloob Azam; Meisam Babaei; Gholamreza Bahrami Monajemi; Pouria Mohammadi; Saeed Samie; Selina Banu; Jorge Pinto Basto; Fanny Kortüm; Mislen Bauer; Péter Bauer; Christian Beetz; Masoud Garshasbi; Awatif Hameed Issa; Wafaa Eyaid; Hind Ahmed; Narges Hashemi; Kazem Hassanpour; Isabella Herman; Sherozjon Ibrohimov; Ban A. Abdul–Majeed; Maria Imdad; Maksudjon Isrofilov; Qassem Kaiyal; Suliman Khan; Brian Kirmse; Janet Koster; Charles Marques Lourenço; Tadahiro Mitani; Oana Moldovan; David Murphy; Maryam Najafi; Davut Pehli̇van; María Eugenia Rocha; Vincenzo Salpietro; Miriam Schmidts; Adel Shalata; Mohammad Mahroum; Jawabreh Kassem Talbeya; Robert W. Taylor; Daniel Vázquez; Annalisa Vetro; Hans R. Waterham; Mashaya Zaman; Tina A. Schrader; Wendy K. Chung; Renzo Guerrini; James R. Lupski; Joseph G. Gleeson; Mohnish Suri; Yalda Jamshidi; Kailash P. Bhatia; Barbara Vona; Michael Schrader; Mariasavina Severino; Matthew Guille; Edward W. Tate; Gaurav K. Varshney; Henry Houlden; Reza Maroofian
Brain
Academic Journal
Zhigang Liu; Baozhong Xin; Iris N Smith; Valerie Sency; Julia Szekely; Anna Alkelai; Alan Shuldiner; Stephanie Efthymiou; Farrah Rajabi; Stephanie Coury; Catherine A Brownstein; Sabine Rudnik-Schöneborn; Ange-Line Bruel; Julien Thevenon; Shimriet Zeidler; Parul Jayakar; Axel Schmidt; Kirsten Cremer; Hartmut Engels; Sophia O Peters; Maha S Zaki; Ruizhi Duan; Changlian Zhu; Yiran Xu; Chao Gao; Tania Sepulveda-Morales; Reza Maroofian; Issam A Alkhawaja; Mariam Khawaja; Hunaida Alhalasah; Henry Houlden; Jill A Madden; Valentina Turchetti; Dana Marafi; Pankaj B Agrawal; Ulrich Schatz; Ari Rotenberg; Joshua Rotenberg; Grazia M S Mancini; Somayeh Bakhtiari; Michael Kruer; Isabelle Thiffault; Steffen Hirsch; Maja Hempel; Lara G Stühn; Tobias B Haack; Jennifer E Posey; James R Lupski; Hyunpil Lee; Nicholas B Sarn; Charis Eng; Claudia Gonzaga-Jauregui; Bin Zhang; Heng Wang
Human Molecular Genetics. 32:2981-2995
Academic Journal
Reza Maroofian; Rauan Kaiyrzhanov; Elisa Calì; Mina Zamani; Maha S. Zaki; Matteo P. Ferla; Domenico Tortora; Saeid Sadeghian; Saadia Maryam Saadi; Uzma Abdullah; Ehsan Ghayoor Karimiani; Stéphanie Efthymiou; Gözde Yeşil; Shahryar Alavi; Aisha M. Al Shamsi; Homa Tajsharghi; Mohamed S. Abdel‐Hamid; Nebal Waill Saadi; Fuad Al Mutairi; Lama AlAbdi; Christian Beetz; Zafar Ali; Mehran Beiraghi Toosi; Sabine Rudnik‐Schöneborn; Meisam Babaei; Pirjo Isohanni; Jameel Muhammad; Sheraz Khan; Maha Al Shalan; Scott E. Hickey; Daphna Marom; Emil Elhanan; Manju A. Kurian; Dana Marafi; Alihossein Saberi; Mohammad Hamid; Robert Spaull; Linyan Meng; Seema R. Lalani; Shazia Maqbool; Fatima Rahman; Jürgen Seeger; Timothy Blake Palculict; Tracy Lau; David Murphy; Niccolò E. Mencacci; Katharina Steindl; Anaïs Begemann; Anita Rauch; Sinan Akbas; Ayça Dilruba Aslanger; Vincenzo Salpietro; Hammad Yousaf; Shay Ben‐Shachar; Katarina Ejeskär; Aida I Al Aqeel; Frances A. High; Amy Armstrong‐Javors; Seyed Mohammadsaleh Zahraei; Tahereh Seifi; Jawaher Zeighami; Gholamreza Shariati; Alireza Sedaghat; Samaneh Noroozi Asl; Mohmmad Shahrooei; Giovanni Zifarelli; Lydie Bürglen; Claudia Ravelli; Johannes Zschocke; Ulrich A. Schatz; Maryam Ghavideldarestani; Walaa A. Kamel; Hilde Van Esch; Annette Hackenberg; Jenny C. Taylor; Lihadh Al‐Gazali; Peter Bauer; Joseph J Gleeson; Fowzan S. Alkuraya; James R. Lupski; Hamid Galehdari; Reza Azizi Malamiri; Wendy K. Chung; Shahid Mahmood Baig; Henry Houlden; Mariasavina Severino
Brain
Academic Journal
Eur J Neurol
European Journal of Neurology
European Journal of Neurology
Academic Journal
Miriam S. Reuter; Michael Zech; Maja Hempel; Janine Altmüller; Tracy Heung; Laura Pölsler; René Santer; Holger Thiele; Brett Trost; Christian Kubisch; Stephen W. Scherer; Sabine Rudnik-Schöneborn; Anne S. Bassett; Davor Lessel
Eur. J. Hum. Genet. 30, 611-618 (2022)
Academic Journal
Schänzer, Anne; Achleitner, Melanie T.; Trümbach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, René G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik-Schöneborn, Sabine; Ruiz, Anna; Gabau, Elisabeth; Sánchez, Jacobo Pérez; Ellard, Sian; Homfray, Tessa; Stals, Karen L.; Wurst, Wolfgang; Neubauer, Bernd A.; Acker, Till; Bohlander, Stefan K.; Asensio, Cédric; Besmond, Claude; Alkuraya, Fowzan S.; AlSayed, Moenaldeen D.; Hahn, Andreas; Weber, Axel; Justus Liebig University Giessen
Ann Neurol
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
ANNALS OF NEUROLOGY
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Annals of neurology 90(1), 143-158 (2021). doi:10.1002/ana.26127
Ann. Neurol. 90, 143-158 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
ANNALS OF NEUROLOGY
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Annals of neurology 90(1), 143-158 (2021). doi:10.1002/ana.26127
Ann. Neurol. 90, 143-158 (2021)
Academic Journal
S, Rudnik-Schöneborn; M, Messner; M, Vockel; B, Wirleitner; G-M, Pinggera; M, Witsch-Baumgartner; M, Murtinger; S, Kliesch; M, Swoboda; N, Sänger; J, Zschocke; F, Tüttelmann
Human Reproduction. 36:551-559
Academic Journal
Manzanilla Romero HH; Steil AS; Santner V; Von der Heidt A; Verheyen N; Pölzl G; Witsch-Baumgartner M; Rudnik-Schöneborn S
Publisher: Karger Country of Publication: Switzerland NLM ID: 1266406 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9751 (Electronic) Linking ISSN: 00086312 NLM ISO Abbreviation: Cardiology Subsets: MEDLINE
Academic Journal
Sukhleen Kour; Deepa S. Rajan; Tyler R. Fortuna; Eric N. Anderson; Caroline Ward; Youngha Lee; Sangmoon Lee; Yong Beom Shin; Jong-Hee Chae; Murim Choi; Karine Siquier; Vincent Cantagrel; Jeanne Amiel; Elliot S. Stolerman; Sarah S. Barnett; Margot A. Cousin; Diana Castro; Kimberly McDonald; Brian Kirmse; Andrea H. Nemeth; Dhivyaa Rajasundaram; A. Micheil Innes; Danielle Lynch; Patrick Frosk; Abigail Collins; Melissa Gibbons; Michele Yang; Isabelle Desguerre; Nathalie Boddaert; Cyril Gitiaux; Siri Lynne Rydning; Kaja K. Selmer; Roser Urreizti; Alberto Garcia-Oguiza; Andrés Nascimento Osorio; Edgard Verdura; Aurora Pujol; Hannah R. McCurry; John E. Landers; Sameer Agnihotri; E. Corina Andriescu; Shade B. Moody; Chanika Phornphutkul; Maria J. Guillen Sacoto; Amber Begtrup; Henry Houlden; Janbernd Kirschner; David Schorling; Sabine Rudnik-Schöneborn; Tim M. Strom; Steffen Leiz; Kali Juliette; Randal Richardson; Ying Yang; Yuehua Zhang; Minghui Wang; Jia Wang; Xiaodong Wang; Konrad Platzer; Sandra Donkervoort; Carsten G. Bönnemann; Matias Wagner; Mahmoud Y. Issa; Hasnaa M. Elbendary; Valentina Stanley; Reza Maroofian; Joseph G. Gleeson; Maha S. Zaki; Jan Senderek; Udai Bhan Pandey
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Ghayoor Karimiani, Ehsan; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Sheraz, Khan; Al Shalan, Maha; Hickey, Scott E; et al; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita
Academic Journal
Gynäkologische Endokrinologie. 17:99-109
Academic Journal
Santner, V.; Höller, V.; Schwegel, N.; Zach, D.; Belciug, R.; Wallner, M.; Gollmer, J.; Kolesnik, E.; Rainer, P.P.; von Lewinski, D.; Ablasser, K.; Zirlik, A.; Verheyen, N.; Ungericht, M.; Pölzl, G.; Tichy, H.; Heitzer, E.; Waltl, G.; Rudnik-Schöneborn, S.
In: Scientific Reports . (Scientific Reports, December 2025, 15(1))
Academic Journal
Manzanilla-Romero HH; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Schermer E; Pediatrics III (Cardiopulmonary Unit), Medical University of Innsbruck, Innsbruck, Austria.; Mayr A; Clinic of Radiology, Medical University of Innsbruck, Innsbruck, Austria.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. sabine.rudnik@i-med.ac.at.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE
Academic Journal
M.C. Braunisch; H. Gallwitz; A. Abicht; I. Diebold; E. Holinski‐Feder; L. Van Maldergem; M. Lammens; R. Kovács‐Nagy; B. Alhaddad; T.M. Strom; T. Meitinger; J. Senderek; S. Rudnik‐Schöneborn; T.B. Haack
Clinical genetics
Clin. Genet. 93, 255-265 (2017)
Clin. Genet. 93, 255-265 (2017)
Academic Journal
Auer-Grumbach, M.; Toegel, S.; Schabhüttl, M.; Weinmann, D.; Chiari, C.; Bennett, D.L.; Beetz, C.; Klein, D.; Andersen, P.M.; Böhme, I.; Fink-Puches, R.; Gonzalez, M.; Harms, M.B.; Motley, W.; Reilly, M.M.; Renner, W.; Rudnik-Schöneborn, S.; Schlotter-Weigel, B.; Themistocleous, A.C.; Weishaupt, J.H.; Ludolph, A.C.; Wieland, T.; Tao, F.; Abreu, L.; Windhager, R.; Zitzelsberger, M.; Strom, T.M.; Walther, T.; Scherer, S.S.; Zuchner, S.; Martini, R.; Senderek, J.
Am. J. Hum. Genet. 99, 607-623 (2016)
Academic Journal
David M; Klinik für Gynäkologie, Campus Virchow-Klinikum, Charité - Universitätsmedizin Berlin, Berlin, Germany.; von Ahsen N; Institut für Labormedizin, Klinikum Links der Weser, Gesundheit Nord Klinikverbund Bremen gGmbH, Bremen, Germany.; Alkatout I; Universitätsklinikum Schleswig-Holstein, Campus Kiel, Klinik für Gynäkologie und Geburtshilfe, Kiel, Germany.; Bahlmann F; Bürgerhospital Frankfurt am Main, Frauenklinik, Frankfurt am Main, Germany.; Fehr PM; Frauenklinik Kantonsspital Graubünden, Chur, Switzerland.; Hancke K; Universitätsfrauenklinik Ulm, UniFee - Kinderwunsch, Fertility and Endocrinology, Ulm, Germany.; Hiller R; Institut für Pathologie, Universitätsklinik Leipzig, Leipzig, Germany.; Hodel M; Geburtshilfe und Fetomaternale Medizin, Luzerner Kantonsspital, Luzern, Switzerland.; Hoopmann M; Universität-Frauenklinik Tübingen, Department für Frauengesundheit, Tübingen, Germany.; Korell M; Klinik für Gynäkologie und Geburtshilfe am Johanna Etienne Krankenhaus, Neuss, Germany.; Manegold-Brauer G; Abt. Gyn. Sonographie und Pränataldiagnostik, Frauenklinik, Universitätsspital Basel; Basel, Switzerland.; Markfeld-Erol F; Universitätsklinikum Freiburg, Klinik für Frauenheilkunde, Freiburg, Germany.; Müller AM; Praxis für Pathologie/Zentrum für Kinderpathologie an der Uniklinik Köln, Universitätsklinik Köln, Köln, Germany.; Oppelt P; Kepler Universitätsklinikum, Universitätsklinik für Gynäkologie, Geburtshilfe und Gyn. Endokrinologie, Linz, Austria.; Rudnik-Schöneborn S; Institut für Humangenetik, Medizinische Universität Innsbruck, Austria.; Sonntag B; Facharztzentrum für Kinderwunsch, pränatale Medizin, Endokrinologie und Osteologie, amedes fertility Hamburg Barkhof, Hamburg, Germany.; Starkmuth S; Bochum, Germany.; Valet A; Gynäkologische und Geburtshilfliche Praxis, Endokrinologisches Institut, ambulante Operationen Herborn, Herborn, Germany.; Wallwiener S; Klinik für Geburtshilfe und Pränatalmedizin, Universitätsmedizin Halle (Saale), Halle, Germany.; Weichert J; Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Klinik für Gynäkologie und Geburtshilfe, Lübeck, Germany.; Witzel S; Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften (AWMF) - Institut für Medizinisches Wissensmanagement, Frankfurt am Main.; Becker S; Universitätsmedizin Frankfurt am Main, Klinik für Frauenheilkunde und Geburtshilfe, Frankfurt am Main, Germany.
Publisher: Georg Thieme Verlag Country of Publication: Germany NLM ID: 0370732 Publication Model: eCollection Cited Medium: Print ISSN: 0016-5751 (Print) Linking ISSN: 00165751 NLM ISO Abbreviation: Geburtshilfe Frauenheilkd Subsets: PubMed not MEDLINE
Academic Journal
Schwaninger G; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Taxer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Marti S; Institute of Laboratory Medicine, Team Medical Genetics, Kantons-Hospital Aarau, Aarau, Switzerland.; Cionca S; Health University of Applied Sciences Tyrol, Innsbruck, Austria.; Freilinger P; Genetikum, Neu-Ulm, Stuttgart, Germany.; Gemperle C; Devision of Metabolism, University of Zurich, Zurich, Switzerland.; Kalantidou A; Genetikum, Neu-Ulm, Stuttgart, Germany.; Stöhr H; Institute for Human Genetics, University Clinic, Regensburg, Germany.; Ramcke S; Institute for Human Genetics, University Clinic, Hamburg-Eppendorf, Hmaburg, Germany.; Wölwer C; Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Academic Journal
Schwaninger G; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Heidemann S; Institute of Tumor Genetics North, Kiel, Germany.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Academic Journal
Knopp, C. ; Rudnik-Schöneborn, S. ; Eggermann, T. ; Bergmann, C. ; Begemann, M. ; Schoner, K. ; Zerres, K. ; Ortiz Brüchle, N.
In Molecular and Cellular Probes October 2015 29(5):299-307
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[검색어] Rudnik-Schöneborn, S.
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