학술논문
'학술논문'
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1~10
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
Ulrike Hüffmeier; Cornelia Kraus; Miriam S. Reuter; Steffen Uebe; Mary-Alice Abbott; Syed A. Ahmed; Kristyn L. Rawson; Eileen Barr; Hong Li; Ange-Line Bruel; Laurence Faivre; Frédéric Tran Mau-Them; Christina Botti; Susan Brooks; Kaitlyn Burns; D. Isum Ward; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; UCLA California Center for Rare Disease; Pia Zacher; Rami Abou Jamra; Chiara Klöckner; Julie McGaughran; Jürgen Kohlhase; Sarah Schuhmann; Ellen Moran; John Pappas; Annick Raas-Rothschild; Maria J. Guillen Sacoto; Lindsay B. Henderson; Timothy Blake Palculict; Sureni V. Mullegama; Houda Zghal Elloumi; Adi Reich; Samantha A. Schrier Vergano; Erica Wahl; André Reis; Christiane Zweier
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
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