학술논문
'학술논문'
에서 검색결과 125건 | 목록
1~10
Academic Journal
Malavika Hebbar; Nawaf Al-Taweel; Inderpal Gill; Cyrus Boelman; Richard A. Dean; Samuel J. Goodchild; Janette Mezeyova; Noah Gregory Shuart; J. P. Johnson; James Lee; Aspasia Michoulas; Linda L. Huh; Linlea Armstrong; Mary B. Connolly; Michelle K. Demos
BMC Neurology, Vol 24, Iss 1, Pp 1-7 (2024)
Academic Journal
Hebbar, Malavika; Al-Taweel, Nawaf; Gill, Inderpal; Boelman, Cyrus; Dean, Richard A.; Goodchild, Samuel J.; Mezeyova, Janette; Shuart, Noah Gregory; Johnson, J. P.; Lee, James; Michoulas, Aspasia; Huh, Linda L.; Armstrong, Linlea; Connolly, Mary B.; Demos, Michelle K.
BMC Neurology. January 17, 2024, Vol. 24 Issue 1
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Academic Journal
Simran Samra; Mehul Sharma; Maryam Vaseghi-Shanjani; Kate L. Del Bel; Loryn Byres; Susan Lin; Joshua Dalmann; Areesha Salman; Jill Mwenifumbo; Bhavi P. Modi; Catherine M. Biggs; Cyrus Boelman; Lorne A. Clarke; Anna Lehman; Stuart E. Turvey
HGG Advances, Vol 5, Iss 1, Pp 100259- (2024)
Academic Journal
Appendino, Juan Pablo; Boelman, Cyrus; Brna, Paula M; Burneo, Jorge G; Claassen, Curtis S; Connolly, Mary B; De Guzman, Michael VT; Federico, Paolo; Floyd, Deirdre; Huntsman, Richard James; Javidan, Manouchehr; Jette, Nathalie; Jurasek, Laura L; Keezer, Mark R; Lau, Jonathan C; McCoy, Bláthnaid; McLachlan, Richard S; Ng, Marcus C; Nguyen, Dang Khoa; Reid, Aylin Y; Rho, Jong M; Snead, O Carter; Téllez-Zenteno, José F; Wang, Laura; Zak, Maria Martha
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46(6)
Academic Journal
Margot A. Cousin; Emma L. Veale; Nikita R. Dsouza; Swarnendu Tripathi; Robyn G. Holden; Maria Arelin; Geoffrey Beek; Mir Reza Bekheirnia; Jasmin Beygo; Vikas Bhambhani; Martin Bialer; Stefania Bigoni; Cyrus Boelman; Jenny Carmichael; Thomas Courtin; Benjamin Cogne; Ivana Dabaj; Diane Doummar; Laura Fazilleau; Alessandra Ferlini; Ralitza H. Gavrilova; John M. Graham; Tobias B. Haack; Jane Juusola; Sarina G. Kant; Saima Kayani; Boris Keren; Petra Ketteler; Chiara Klöckner; Tamara T. Koopmann; Teresa M. Kruisselbrink; Alma Kuechler; Laëtitia Lambert; Xénia Latypova; Robert Roger Lebel; Magalie S. Leduc; Emanuela Leonardi; Andrea M. Lewis; Wendy Liew; Keren Machol; Samir Mardini; Kirsty McWalter; Cyril Mignot; Julie McLaughlin; Alessandra Murgia; Vinodh Narayanan; Caroline Nava; Sonja Neuser; Mathilde Nizon; Davide Ognibene; Joohyun Park; Konrad Platzer; Céline Poirsier; Maximilian Radtke; Keri Ramsey; Cassandra K. Runke; Maria J. Guillen Sacoto; Fernando Scaglia; Marwan Shinawi; Stephanie Spranger; Ee Shien Tan; John Taylor; Anne-Sophie Trentesaux; Filippo Vairo; Rebecca Willaert; Neda Zadeh; Raul Urrutia; Dusica Babovic-Vuksanovic; Michael T. Zimmermann; Alistair Mathie; Eric W. Klee
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Academic Journal
Academic Journal
Wen-Hann Tan; Katherine Anderson; Anjali Sadhwani; Ping Yee Billie Au; Carlos Bacino; Elizabeth Berry-Kravis; Cyrus Boelman; Robert Carson; Margaret DeRamus; Jessica Duis; Kara Murias; Cesar Ochoa-Lubinoff; Sarika Peters; Erick Sell; Steven Skinner; Amy Talboy; Anne Wheeler; Logan Wink; Angela Gwaltney; Lynne Bird
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100116- (2023)
Academic Journal
Cousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H.; Graham, Jr, John M.; Haack, Tobias B.; Juusola, Jane; Kant, Sarina G.; Kayani, Saima; Keren, Boris; Ketteler, Petra; Klöckner, Chiara; Koopmann, Tamara T.; Kruisselbrink, Teresa M.; Kuechler, Alma; Lambert, Laëtitia; Latypova, Xénia; Lebel, Robert Roger; Leduc, Magalie S.; Leonardi, Emanuela; Lewis, Andrea M.; Liew, Wendy; Machol, Keren; Mardini, Samir; McWalter, Kirsty; Mignot, Cyril; McLaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Céline; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K.; Guillen Sacoto, Maria J.; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Tan, Ee Shien; Taylor, John; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T.; Mathie, Alistair; Klee, Eric W.
Genome Medicine. 14(1)
Academic Journal
Hebbar, Malavika; Al-Taweel, Nawaf; Gill, Inderpal; Boelman, Cyrus; Dean, Richard A.; Goodchild, Samuel J.; Mezeyova, Janette; Shuart, Noah Gregory; Johnson, J. P.; Lee, James; Michoulas, Aspasia; Huh, Linda L.; Armstrong, Linlea; Connolly, Mary B.; Demos, Michelle K.
Academic Journal
American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-6, 6p
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