Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Jamie, Fraser"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100898- (2024)
Externí odkaz:
https://doaj.org/article/60f209ba274349fdbc77defa535bc0c4
Autor:
Kimberly Chapman, Spencer Vause, Seth Berger, Deepika Burkardt, Jamie Fraser, Christina Grant, KeriAnn Kuperman, Amy Lewanda, Darilyn Mahoney, Gabrielle Pomorski, Louise Pyle, Kenneth Rosenbaum, Kiley Quintana, Natasha Shur, Debra Regier
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101081- (2024)
Externí odkaz:
https://doaj.org/article/df5a7dfb74694ae2b39e4c6311fb74b0
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101250- (2024)
Externí odkaz:
https://doaj.org/article/1773247b57b949369a929b86db5f1ba1
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101686- (2024)
Externí odkaz:
https://doaj.org/article/de0cec18006b48a999874de445837036
Autor:
Anne Lawrence, Olivier Fortin, Kelsey Christoffel, Jason Schroeder, Abdullah Shoaib, Charu Venkatesan, Kate Cilli, Cesar Alves, Rebecca Ganetzky, Jamie Fraser
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101697- (2024)
Externí odkaz:
https://doaj.org/article/ec7c1a6b39ff4fd182f251a281800fa6
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101698- (2024)
Externí odkaz:
https://doaj.org/article/09e53fcfd8a24c8482414b8cb35870e3
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101706- (2024)
Externí odkaz:
https://doaj.org/article/379e6b0cea534c1b928b49aaaa41768c
Autor:
Jennifer Harmon, Brianna Pierce, Jullie Rhee, Kyle Kroll, Nhu Chau, Matthew Whitehead, Laura Tochen, Jamie Fraser
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100216- (2023)
Externí odkaz:
https://doaj.org/article/53297ccb3a414005856e513bfc1d082b
Autor:
Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)
Abstract Objective Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with R
Externí odkaz:
https://doaj.org/article/0451d47dda844ada9b1700050648a958
Autor:
Francesco, Gavazzi, Samuel R, Pierce, Joseph, Vithayathil, Kristin, Cunningham, Kim, Anderson, Jacob, McCann, Ashley, Moll, Kayla, Muirhead, Omar, Sherbini, Erin, Prange, Holly, Dubbs, Laura, Tochen, Jamie, Fraser, Ingo, Helbig, Naomi, Lewin, Nivedita, Thakur, Laura A, Adang
Publikováno v:
Molecular Genetics and Metabolism. 137:26-32
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disorder characterized by iron accumulation in the brain with spectrum of neurodevelopmental and movement phenotypes. In anticipation of future clinical trials and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f3cc92f06c2300adf6a29b9700d66d
https://doi.org/10.1016/j.ymgme.2022.07.009
https://doi.org/10.1016/j.ymgme.2022.07.009