학술논문
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'학술논문'
에서 검색결과 625건 | 목록
1~20
Academic Journal
Giulia Di Rauso(Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia; Neurology, Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena); Francesco Cavallieri; Edoardo Monfrini(Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Neurology Unit; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan); Alessandro Fraternali; Valentina Fioravanti; Sara Grisanti; Annalisa Gessani; Isabella Campanini; Andrea Merlo; Giulia Toschi; Manuela Napoli; Rosario Pascarella; Rosamaria Silipigni; Palma Finelli(Medical Genetics Laboratory, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Department of Medical Biotechnology and Translational Medicine); Jefri J. Paul; Peter Bauer; Annibale Versari; Alessio Di Fonzo; Franco Valzania
Journal Of Movement Disorders, 17(2), pp.236-238 Apr, 2024
Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases
Academic Journal
Charlotte Aries; Anja Köhn; Karolin Täuber; Cornelia Rudolph; Tobias Böttcher; Peter Bauer; Steffen Fischer; Nicole Muschol
Frontiers in Neurology, Vol 16 (2026)
Academic Journal
Nils Wedi; Irina Sandu; Peter Bauer; Mario Acosta; Rune Carbuhn Andersen; Ulf Andrae; Ludovic Auger; Gianpaolo Balsamo; Vasileios Baousis; Victoria Bennett; Andrew Bennett; Carlo Buontempo; Pierre-Antoine Bretonnière; René Capell; Miguel Castrillo; Matthew Chantry; Matthieu Chevallier; Ricardo Correa; Paolo Davini; Leif Denby; Francisco Doblas-Reyes; Peter Dueben; Claude Fischer; Claudia Frauen; Inger-Lise Frogner; Barbara Früh; Estíbaliz Gascón; Elisabeth Gérard; Oliver Gorwits; Thomas Geenen; Kat Grayson; Nadia Guenova-Rubio; Ioan Hadade; Jost von Hardenberg; Utz-Uwe Haus; James Hawkes; Marcus Hirtl; Joern Hoffmann; Kristian Horvath; Heikki Järvinen; Thomas Jung; Alexander Kann; Daniel Klocke; Nikolay Koldunov; Jenni Kontkanen; Outi Sievi-Korte; Jørn Kristiansen; Emma Kuwertz; Jarmo Mäkelä; Ilja Maljutenko; Pekka Manninen; Ursula S. McKnight; Sebastian Milinski; Andreas Mueller; Antony McNally; Umberto Modigliani; Devaraju Narayanappa; Kristian Pagh Nielsen; Thomas Nipen; Henrik Nortamo; Vincent-Henri Peuch; Suraj Polade; Tiago Quintino; Irene Schicker; Balthasar Reuter; Simon Smart; Mike Sleigh; Martin Suttie; Piet Termonia; Stephan Thober; Roger Randriamampianina; Natalie Theeuwes; Daniel Thiemert; Benoît Vannière; Stéphane Vannitsem; Christoph Wittmann; Xiaohua Yang; Marc Pontaud; Bjorn Stevens; Florian Pappenberger
Journal of the European Meteorological Society, Vol 3, Iss , Pp 100015- (2025)
Academic Journal
Nuclear Materials and Energy, Vol 46, Iss , Pp 102058- (2026)
Academic Journal
Lara M. Lange; Kristin Levine; Susan H. Fox; Connie Marras; Nazish Ahmed; Nicole Kuznetsov; Dan Vitale; Hirotaka Iwaki; Katja Lohmann; Luca Marsili; Alberto J. Espay; Peter Bauer; Christian Beetz; Jessica Martin; Stewart A. Factor; Lenora A. Higginbotham; Honglei Chen; Hampton Leonard; Mike A. Nalls; Niccolo E. Mencacci; Huw R. Morris; Andrew B. Singleton; Christine Klein; Cornelis Blauwendraat; Zih-Hua Fang; the Global Parkinson’s Genetics Program (GP2)
npj Parkinson's Disease, Vol 11, Iss 1, Pp 1-10 (2025)
Academic Journal
Claire Y. Chiang; Neringa Pratuseviciute; Yu-En Lin; Ayan Adhikari; Wondwossen M. Yeshaw; Chloe Flitton; Pemba L. Sherpa; Francesca Tonelli; Irena Rektorova; Timothy Lynch; Joanna Siuda; Monika Rudzińska-Bar; Oleksandr Pulyk; Peter Bauer; Christian Beetz; Dennis W. Dickson; Owen A. Ross; Zbigniew K. Wszolek; Zih-Hua Fang; Christine Klein; Alexander Zimprich; Dario R. Alessi; Esther M. Sammler; Suzanne R. Pfeffer
Cell Reports, Vol 44, Iss 8, Pp 116031- (2025)
Academic Journal
Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Yanwen Shen; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L. Rippert; Christopher Gray; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V. F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Hatice Koçak Eker; Davut Pehlivan; Jennifer E. Posey; Natalie C. Lippa; Natalie Vena; Erin L. Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M. H. Abdel-Salam; Mohamed S. Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Belen Perez-Duenas; Ana Cazurro-Gutierrez; Edgard Verdura; Veronica Cantarin-Extremera; Ana do Vale Marques; Aleksandra Helwak; David Tollervey; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao
Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)
Academic Journal
Michal Becker-Cohen; Ari Zimran; Tama Dinur; Maayan Tiomkin; Arndt Rolfs; David Arkadir; Peter Bauer; Elena Shulman; Gilad Yahalom; Mikhal E. Cohen; Orly Manor; Ora Paltiel; Shoshana Revel-Vilk
Life, Vol 15, Iss 6, p 952 (2025)
Academic Journal
Mandy Radefeldt; Erick Alberto Rivera Comparan; Christian Beetz; Tobias Boettcher; Sabrina Lemke; Catarina Pereira; Sebastian Oppermann; Claudia Mrosowski; Susan Zielske; Peter Bauer
Genetics in Medicine Open, Vol 3, Iss , Pp 103040- (2025)
Academic Journal
Eleni Perraki; Mariana Ferreira; Emir Zonic; Boodor Al-Kawlani; Deepa Saravanakumar; Ismet Duranovic; Javier Martini; Maria Eugenia Rocha; Ruxandra Aanicai; Alejandra Reyes; Catarina Pereira; Omid Paknia; Peter Bauer; Aida Bertoli-Avella; Jorge Pinto-Basto
Genetics in Medicine Open, Vol 3, Iss , Pp 103109- (2025)
Academic Journal
Journal of the European Meteorological Society, Vol 1, Iss , Pp 100002- (2024)
Academic Journal
Begoña Talavera Andújar; Sandro L. Pereira; Susheel Bhanu Busi; Tatiana Usnich; Max Borsche; Sibel Ertan; Peter Bauer; Arndt Rolfs; Soraya Hezzaz; Jenny Ghelfi; Norbert Brüggemann; Paul Antony; Paul Wilmes; Christine Klein; Anne Grünewald; Emma L. Schymanski
Environment International, Vol 194, Iss , Pp 109151- (2024)
Academic Journal
Asha Kishore; Marc Sturm; Kanchana Soman Pillai; Christopher Hakkaart; Divya Kalikavil Puthanveedu; Madhusoodanan Urulangodi; Syam Krishnan; Ashwin Ashok Kumar Sreelatha; Roopa Rajan; Pramod Kumar Pal; Ravi Yadav; Gangadhara Sarma; Nicolas Casadei; Thomas Gasser; Peter Bauer; Olaf Riess; Manu Sharma
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-5 (2024)
Academic Journal
Viorica Chelban; Henriette Aksnes; Reza Maroofian; Lauren C. LaMonica; Luis Seabra; Anette Siggervåg; Perrine Devic; Hanan E. Shamseldin; Jana Vandrovcova; David Murphy; Anne-Claire Richard; Olivier Quenez; Antoine Bonnevalle; M. Natalia Zanetti; Rauan Kaiyrzhanov; Vincenzo Salpietro; Stephanie Efthymiou; Lucia V. Schottlaender; Heba Morsy; Annarita Scardamaglia; Ambreen Tariq; Alistair T. Pagnamenta; Ajia Pennavaria; Liv S. Krogstad; Åse K. Bekkelund; Alessia Caiella; Nina Glomnes; Kirsten M. Brønstad; Sandrine Tury; Andrés Moreno De Luca; Anne Boland-Auge; Robert Olaso; Jean-François Deleuze; Mathieu Anheim; Benjamin Cretin; Barbara Vona; Fahad Alajlan; Firdous Abdulwahab; Jean-Luc Battini; Rojan İpek; Peter Bauer; Giovanni Zifarelli; Serdal Gungor; Semra Hiz Kurul; Hanns Lochmuller; Sahar I. Da’as; Khalid A. Fakhro; Alicia Gómez-Pascual; Juan A. Botía; Nicholas W. Wood; Rita Horvath; Andreas M. Ernst; James E. Rothman; Meriel McEntagart; Yanick J. Crow; Fowzan S. Alkuraya; Gaël Nicolas; SYNaPS Study Group; Thomas Arnesen; Henry Houlden
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Academic Journal
Neurological Sciences and Neurophysiology, Vol 41, Iss 2, Pp 118-120 (2024)
Academic Journal
Pablo Iruzubieta; César Augusto Pinheiro Ferreira Alves; Aisha M. Al Shamsi; Gehad ElGhazali; Maha S. Zaki; Lorenzo Pinelli; Diego Lopergolo; Bernard P.H. Cho; Amy A. Jolly; Amna Al Futaisi; Fatema Al-Amrani; Jessica Galli; Elisa Fazzi; Katarina Vulin; Francisco Barajas-Olmos; Holger Hengel; Bayan Mohammed Aljamal; Vahideh Nasr; Farhad Assarzadegan; Michele Ragno; Luigi Trojano; Naomi Meave Ojeda; Arman Çakar; Silvia Bianchi; Francesca Pescini; Anna Poggesi; Amal Al Tenalji; Majid Aziz; Rahema Mohammad; Aziza Chedrawi; Nicola De Stefano; Giovanni Zifarelli; Ludger Schöls; Tobias B. Haack; Adriana Rebelo; Stephan Zuchner; Filiz Koc; Lyn R. Griffiths; Lorena Orozco; Karla García Helmes; Meisam Babaei; Peter Bauer; Won Chan Jeong; Ehsan Ghayoor Karimiani; Miriam Schmidts; Joseph G. Gleeson; Wendy K. Chung; Fowzan Sami Alkuraya; Bita Shalbafan; Hugh S. Markus; Henry Houlden; Reza Maroofian
EBioMedicine, Vol 107, Iss , Pp 105297- (2024)
Academic Journal
Corina-Marcela Rus; Daniel L. Polla; Sebastiano Di Bucchianico; Steffen Fischer; Jörg Hartkamp; Guido Hartmann; Yunus Alpagu; Claudia Cozma; Ralf Zimmermann; Peter Bauer
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Academic Journal
Carolina Gracia-Diaz; Yijing Zhou; Qian Yang; Reza Maroofian; Paula Espana-Bonilla; Chul-Hwan Lee; Shuo Zhang; Natàlia Padilla; Raquel Fueyo; Elisa A. Waxman; Sunyimeng Lei; Garrett Otrimski; Dong Li; Sarah E. Sheppard; Paul Mark; Margaret H. Harr; Hakon Hakonarson; Lance Rodan; Adam Jackson; Pradeep Vasudevan; Corrina Powel; Shehla Mohammed; Sateesh Maddirevula; Hamad Alzaidan; Eissa A. Faqeih; Stephanie Efthymiou; Valentina Turchetti; Fatima Rahman; Shazia Maqbool; Vincenzo Salpietro; Shahnaz H. Ibrahim; Gabriella di Rosa; Henry Houlden; Maha Nasser Alharbi; Nouriya Abbas Al-Sannaa; Peter Bauer; Giovanni Zifarelli; Conchi Estaras; Anna C. E. Hurst; Michelle L. Thompson; Anna Chassevent; Constance L. Smith-Hicks; Xavier de la Cruz; Alexander M. Holtz; Houda Zghal Elloumi; M J Hajianpour; Claudine Rieubland; Dominique Braun; Siddharth Banka; Genomic England Research Consortium; Deborah L. French; Elizabeth A. Heller; Murielle Saade; Hongjun Song; Guo-li Ming; Fowzan S. Alkuraya; Pankaj B. Agrawal; Danny Reinberg; Elizabeth J. Bhoj; Marian A. Martínez-Balbás; Naiara Akizu
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Academic Journal
Paul Zajic; Michael Hiesmayr; Peter Bauer; David M. Baron; Anastasiia Gruber; Michael Joannidis; Martin Posch; Philipp G. H. Metnitz
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Academic Journal
Tobias Boettcher; Christian Beetz; Daniel Schulze; Deepa Saravanakumar; Emir Zonic; Sabine Schroeder; Anett Kaune; Omid Paknia; Jorge Pinto Basto; Peter Bauer
Genetics in Medicine Open, Vol 2, Iss , Pp 101116- (2024)
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