학술논문
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'학술논문'
에서 검색결과 15건 | 목록
1~20
Academic Journal
In European Journal of Medical Genetics June 2023 66(6)
Academic Journal
In Expert Systems With Applications 15 October 2021 180
Academic Journal
Leblond, Claire S. ; Le, Thuy-Linh ; Malesys, Simon ; Cliquet, Freddy ; Tabet, Anne-Claude ; Delorme, Richard ; Rolland, Thomas ; Bourgeron, Thomas
In Molecular and Cellular Neuroscience June 2021 113
Academic Journal
Le, Thuy-Linh ; Sribudiani, Yunia ; Dong, Xiaomin ; Huber, Céline ; Kois, Chelsea ; Baujat, Geneviève ; Gordon, Christopher T. ; Mayne, Valerie ; Galmiche, Louise ; Serre, Valérie ; Goudin, Nicolas ; Zarhrate, Mohammed ; Bole-Feysot, Christine ; Masson, Cécile ; Nitschké, Patrick ; Verheijen, Frans W. ; Pais, Lynn ; Pelet, Anna ; Sadedin, Simon ; Pugh, John A. ; Shur, Natasha ; White, Susan M. ; El Chehadeh, Salima ; Christodoulou, John ; Cormier-Daire, Valérie ; Hofstra, R.M.W. ; Lyonnet, Stanislas ; Tan, Tiong Yang ; Attié-Bitach, Tania ; Kerstjens-Frederikse, Wilhelmina S. ; Amiel, Jeanne ; Thomas, Sophie
In The American Journal of Human Genetics 4 June 2020 106(6):779-792
Academic Journal
Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza ; Geminder, Ophir ; Le, Thuy-Linh ; Marzin, Pauline ; Guimier, Anne ; Mor, Evyatar ; Zvi, Naama ; Elefant, Naama ; Zaki, Maha S. ; Gleeson, Joseph G. ; Muru, Kai ; Pajusalu, Sander ; Wojcik, Monica H. ; Pachat, Divya ; Elmaksoud, Marwa Abd ; Chan Jeong, Won ; Lee, Hane ; Bauer, Peter ; Zifarelli, Giovanni ; Houlden, Henry ; Daana, Muhannad ; Elpeleg, Orly ; Amiel, Jeanne ; Lyonnet, Stanislas ; Gordon, Christopher T. ; Harel, Tamar ; Õunap, Katrin ; Salton, Maayan ; Mor-Shaked, Hagar
In The American Journal of Human Genetics 7 December 2023 110(12):2112-2119
Conference
Academic Journal
Werren, Elizabeth A.; LaForce, Geneva R.; Srivastava, Anshika; Perillo, Delia R.; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L.; Pfennig, Christian D.; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raúl; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E. J.; Louie, Raymond J.; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T.; Boztug, Kaan; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L.; Schaffer, Ashleigh E.
Nature Communications. 15(1)
Academic Journal
Le, Thuy-Linh; Galmiche, Louise; Levy, Jonathan; Suwannarat, Pim; Hellebrekers, Debby M.E.I.; Morarach, Khomgrit; Boismoreau, Franck; Theunissen, Tom E.J.; Lefebvre, Mathilde; Pelet, Anna; Martinovic, Jelena
Journal of Clinical Investigation. June, 2021, Vol. 131 Issue 6
Academic Journal
Werren E; University of Michigan-Ann Arbor.; LaForce G; Case Western Reserve University.; Srivastava A; Sanjay Gandhi Postgraduate Institute of Medical Sciences.; Perillo D; University of Michigan.; Johnson K; Case Western Reserve University.; Berger B; Case Western Reserve University.; Regan S; University of Michigan.; Pfennig C; University of Michigan.; Baris S; Marmara University Hospital.; de Munnik S; Radboud University Medical Centre Nijmegen.; Pfundt R; Radboud University Medical Centre.; Hebbar M; University of Washington.; Jimenez Heredia R; CeMM Research Center for Molecular Medicine.; Karakoc-Aydiner E; Marmara University Hospital.; Ozen A; Marmara University Hospital.; Dmytrus J; CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences.; Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.; Corning K; Greenwood Genetic Center.; Prijoles E; Greenwood Genetic Center.; Louie R; Greenwood Genetic Center.; Lebel R; SUNY Upstate University Hospital.; Le TL; Imagine Institute, INSERM U1163, Paris Descartes University.; Amiel J; Necker.; Gordon C; Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine.; Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.; Girisha K; Kasturba Medical College, Manipal, Manipal Academy of Higher Education.; Shukla A; Kasturba Medical College.; Bielas S; University of Michigan-Ann Arbor.; Schaffer A; Case Western Reserve University.
Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE
Academic Journal
Gui, Hongsheng; Schriemer, Duco; Cheng, William W.; Chauhan, Rajendra K.; AntiAolo, Guillermo; Berrios, Courtney; Bleda, Marta; Brooks, Alice S.; Brouwer, Rutger W. W.; Burns, Alan J.; Cherny, Stacey S.; Dopazo, Joaquin; Eggen, Bart J. L.; Griseri, Paola; Jalloh, Binta; Le, Thuy-Linh; Lui, Vincent C. H.; Luzon-Toro, Berta; Matera, Ivana; Ngan, Elly S. W.; Pelet, Anna; Ruiz-Ferrer, Macarena; Sham, Pak C.; Shepherd, Iain T.; So, Man-Ting; Sribudiani, Yunia; Tang, Clara S. M.; van den Hout, Mirjam C. G. N.; van der Linde, Herma C.; van Ham, Tjakko J.; van IJcken, Wilfred F. J.; Verheij, Joke B. G. M.; Amiel, Jeanne; Borrego, Salud; Ceccherini, Isabella; Chakravarti, Aravinda; Lyonnet, Stanislas; Tam, Paul K. H.; Garcia-Barcelo, Maria-Merce; Hofstra, Robert M. W.
Genome Biology (Online Edition). March 8, 2017, Vol. 18 Issue 1
Academic Journal
Engal E; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.; Department of Military Medicine and 'Tzameret', Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Oja KT; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Geminder O; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.; Department of Military Medicine and 'Tzameret', Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Le TL; Institute Imagine, Paris, France.; Mor E; Department of computer science, Ben-Gurion University of the Negev.; Tzvi N; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Elefant N; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, Cairo, Egypt.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, USA.; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, USA.; Muru K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Pajusalu S; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA.; Pachat D; Aster MIMS, Kozhikode, Kerala, India.; Elmaksoud MA; Neurology Unit, Alexandria University Children's Hospital, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Jeong WC; 3billion, Seoul, Korea.; Lee H; 3billion, Seoul, Korea.; Bauer P; CENTOGENE N.V., Am Strande 7, 18055 Rostock, Germany.; Zifarelli G; CENTOGENE N.V., Am Strande 7, 18055 Rostock, Germany.; Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Elpeleg O; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Gordon C; Institute Imagine, Paris, France.; Harel T; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Salton M; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.; Mor-Shaked H; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Tang, Clara Sze-man; Gui, Hongsheng; Kapoor, Ashish; Kim, Jeong-Hyun; Luzon-Toro, Berta; Pelet, Anna; Burzynski, Grzegorz; Lantieri, Francesca; So, Man-ting; Berrios, Courtney; Shin, Hyoung Doo; Fernandez, Raquel M.; Le, Thuy-Linh; Verheij, Joke B. G. M.; Matera, Ivana; Cherny, Stacey S.; Nandakumar, Priyanka; Cheong, Hyun Sub; Antinolo, Guillermo; Amiel, Jeanne; Seo, Jeong-Meen; Kim, Dae-Yeon; Oh, Jung-Tak; Lyonnet, Stanislas; Borrego, Salud; Ceccherini, Isabella; Hofstra, Robert M. W.; Chakravarti, Aravinda; Kim, Hyun-Young; Sham, Pak Chung; Tam, Paul K. H.; Garcia-Barcelo, Maria-Merce
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[AR] Le, Thuy-Linh
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