학술논문
'학술논문'
에서 검색결과 20건 | 목록
1~10
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
Stephanie Efthymiou; Wenyan Han; Muhammad Ilyas; Jun Li; Yichao Yu; Marcello Scala; Nancy T. Malintan; Nikoleta Vavouraki; Kshitij Mankad; Reza Maroofian; Clarissa Rocca; Vincenzo Salpietro; Shenela Lakhani; Eric J. Mallack; Timothy Blake Palculict; Hong Li; Guojun Zhang; Faisal Zafar; Nuzhat Rana; Noriko Takashima; Hayato Matsunaga; Claudia Manzoni; Pasquale Striano; Mark F. Lythgoe; Jun Aruga; Wei Lu; Henry Houlden
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Academic Journal
Ikram Ullah; Muhammad Waqas; Muhammad Ilyas; Sobia Ahsan Halim; Akmal Ahmad; Natalia Dominik; Wahid Ullah; Muhammad Abbas; Muhammad Aamir; Henry Houlden; Stephanie Efthymiou; Ajmal Khan; Ahmed Al-Harrasi
Genes and Diseases, Vol 10, Iss 6, Pp 2263-2266 (2023)
Academic Journal
Stephanie Efthymiou; Luiz E. Novis; Georgios Koutsis; Chrysoula Koniari; Reza Maroofian; Valentina Turchetti; Georgios Velonakis; Luiz F. Vasconcellos; Salmo Raskin; Varunvenkat M. Srinivasan; Alistair T. Pagnamenta; Yaramanchanahalli B. Arun; Uddhava V. Kinhal; Vykuntaraju K. Gowda; Helio A. G. Teive; Henry Houlden
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (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
Rauan Kaiyrzhanov; Maha S. Zaki; Tracy Lau; Sambuddha Sen; Reza Azizimalamiri; Mina Zamani; Gözde Yeşil Sayin; Taru Hilander; Stephanie Efthymiou; Viorica Chelban; Ruth Brown; Kyle Thompson; Maria Irene Scarano; Jaya Ganesh; Kairgali Koneev; Ismail Musab Gülaçar; Richard Person; Dinara Sadykova; Yerdan Maidyrov; Tahereh Seifi; Aizhan Zadagali; Geneviève Bernard; Katrina Allis; Houda Zghal Elloumi; Amanda Lindy; Ehsan Taghiabadi; Sumit Verma; Rachel Logan; Brian Kirmse; Renkui Bai; Shaimaa M. Khalaf; Mohamed S. Abdel‐Hamid; Alireza Sedaghat; Gholamreza Shariati; Mahmoud Issa; Jawaher Zeighami; Hasnaa M. Elbendary; Garry Brown; Robert W. Taylor; Hamid Galehdari; Joseph J. Gleeson; Christopher J. Carroll; James A. Cowan; Andres Moreno‐De‐Luca; Henry Houlden; Reza Maroofian
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Academic Journal
Stephanie Efthymiou; Richard J. L. F. Lemmers; Venugopalan Y. Vishnu; Natalia Dominik; Benedetta Perrone; Stefano Facchini; Elisa Vegezzi; Sabrina Ravaglia; Lindsay Wilson; Patrick J. van der Vliet; Rinkle Mishra; Alisha Reyaz; Tanveer Ahmad; Rohit Bhatia; James M. Polke; Mv Padma Srivastava; Andrea Cortese; Henry Houlden; Silvère M. van der Maarel; Michael G. Hanna; Enrico Bugiardini
Biomolecules, Vol 13, Iss 11, p 1567 (2023)
Academic Journal
Stefano Facchini; Natalia Dominik; Arianna Manini; Stephanie Efthymiou; Riccardo Currò; Bianca Rugginini; Elisa Vegezzi; Ilaria Quartesan; Benedetta Perrone; Shahedah Koya Kutty; Valentina Galassi Deforie; Ricardo P. Schnekenberg; Elena Abati; Anna Pichiecchio; Enza Maria Valente; Cristina Tassorelli; Mary M. Reilly; Henry Houlden; Enrico Bugiardini; Andrea Cortese
Biomolecules, Vol 13, Iss 10, p 1546 (2023)
Academic Journal
Saadia Maryam Saadi; Elisa Cali; Lubaba Bintee Khalid; Hammad Yousaf; Ghazala Zafar; Haq Nawaz Khan; Muhammad Sher; Barbara Vona; Uzma Abdullah; Naveed Altaf Malik; Joakim Klar; Stephanie Efthymiou; Niklas Dahl; Henry Houlden; Mathias Toft; Shahid Mahmood Baig; Ambrin Fatima; Zafar Iqbal
Genes, Vol 14, Iss 7, p 1404 (2023)
Academic Journal
Evin M. Padhi; Tristan J. Hayeck; Zhang Cheng; Sumantra Chatterjee; Brandon J. Mannion; Marta Byrska-Bishop; Marjolaine Willems; Lucile Pinson; Sylvia Redon; Caroline Benech; Kevin Uguen; Séverine Audebert-Bellanger; Cédric Le Marechal; Claude Férec; Stephanie Efthymiou; Fatima Rahman; Shazia Maqbool; Reza Maroofian; Henry Houlden; Rajeeva Musunuri; Giuseppe Narzisi; Avinash Abhyankar; Riana D. Hunter; Jennifer Akiyama; Lauren E. Fries; Jeffrey K. Ng; Elvisa Mehinovic; Nick Stong; Andrew S. Allen; Diane E. Dickel; Raphael A. Bernier; David U. Gorkin; Len A. Pennacchio; Michael C. Zody; Tychele N. Turner
Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)
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