Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Rebekah, Jobling"'
Autor:
Trevor Jamieson, Kevin Thorpe, Francois Bernier, Melyssa Aronson, Marc Clausen, Rita Kodida, Emma Reble, June C Carroll, Jordan Lerner-Ellis, Yvonne Bombard, Matthew Osmond, Muhammad Mamdani, Ronald Cohn, Emily Seto, Hanna Faghfoury, Josh Silver, Maureen Smith, Lauren Chad, Jan M Friedman, Robin Z Hayeems, Michael Brudno, Gregory Costain, Quynh Pham, Anne-Marie Laberge, Christian Marshall, Cheryl Shuman, Rebekah Jobling, Irfan Dhalla, Serena Shastri-Estrada, Daniel Assamad, Stephanie Luca, Stacy Hewson, Eriskay Liston, Frank Rudzicz, Wendy Ungar, Guylaine D'Amours
Publikováno v:
BMJ Open, Vol 14, Iss 9 (2024)
Introduction Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models
Externí odkaz:
https://doaj.org/article/8affa2793f8c4b6b9384324d8a29b5cd
Autor:
Olivia Moran, Cherith Somerville, Miriam Reuter, Kelsey Kalbfleisch, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Raymond Kim, Seema Mital, Rebekah Jobling
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101066- (2024)
Externí odkaz:
https://doaj.org/article/7414ef41b5f34de7a504e14f32401ba1
Autor:
Marci Schwartz, Olivia Moran, Xin Chen, Roozbeh Manshaei, Kelsey Kalbfleisch, Raymond Kim, Rebekah Jobling
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101115- (2024)
Externí odkaz:
https://doaj.org/article/a7d2a6952b6f499e9fa2b51cda5a075f
Autor:
Xin Chen, Qiliang Ding, Roozbeh Manshaei, Marci Schwartz, Olivia Moran, Kaitlin Stanley, Raymond Kim, Rebekah Jobling
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101125- (2024)
Externí odkaz:
https://doaj.org/article/236d7a7a5d504031b4c4826095b92af0
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101236- (2024)
Externí odkaz:
https://doaj.org/article/45e3d92272c547e8ba5cfd446871c265
Autor:
Iris Cohn, Olivia Moran, Kaitlin Stanley, Sierra Scodellaro, April Kennedy, Roozbeh Manshaei, Ruud Verstegen, Shinya Ito, Rebekah Jobling, Tamorah Lewis, Raymond Kim
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101373- (2024)
Externí odkaz:
https://doaj.org/article/512a3d5ce691441b9ab8c150a6661cab
Autor:
Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101469- (2024)
Externí odkaz:
https://doaj.org/article/0bcd695479904c01b8c45291edea92ee
Autor:
Aaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, Gajja S. Salomons, Susan Blaser, Saadet Mercimek‐Andrews
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 3-10 (2020)
Abstract Mitochondrial aminoacyl‐tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We reviewed all patients diagnosed with mitochondrial aminoacyl‐tRNA synthetase deficiencies diagnosed in a sing
Externí odkaz:
https://doaj.org/article/1dc2dec5e0894b1488610e5e3b2c5e5a
Autor:
Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij‐Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago‐Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
Abstract Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS, for regulated secretion. Here, we report three patients with compound he
Externí odkaz:
https://doaj.org/article/d01804508d9f4013b7635980e96e72a8
Autor:
Cherith Somerville, Kelsey Kalbfleisch, Roozbeh Manshaei, Qiliang Ding, John B.A. Okello, Rachel Silver, David Chitayat, Varsha Thakur, Olivier Villemain, Rebekah Jobling
Publikováno v:
Congenital Heart Disease. 18:213-218