Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Julie Richer"'
Autor:
Noémie Villeneuve-Cloutier, Christie Boswell-Patterson, Josée Martineau, Krista Vincent, Andrea Yu, Gail Graham, Julie Richer
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101218- (2024)
Externí odkaz:
https://doaj.org/article/b183a3d146c348688254acd08bca3d45
Autor:
Kathleen Bell, Raymond Kim, Aaron Pollett, Wilson Yu, Syed Ahmed, Muna Aden, Rae Brager, June Carroll, Melissa Carter, Dervla Connaughton, James Dowling, Angela Du, Hanna Faghfoury, Harriet Feilotter, Elaine Goh, Andrea Guerin, Jennifer Hart, Ivy Haw, Rachel Healey, Richard Kim, Goran Klaric, Kaitlyn Lemay, Jerom Nguyen, Luis Peña, Erin Redwood, Julie Richer, Mary Schmitz, Julia Su, Frank Telfer
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101440- (2024)
Externí odkaz:
https://doaj.org/article/60d081e526cd46cea4159f6e77ba78db
Autor:
Katharine Fooks, Lydia Vermeer, Elise Poole, Stephanie Luca, Riyana Babul-Hirji, Lauren Chad, David Chitayat, Michael Mackley, Marci Schwartz, Wendy Ungar, Robin Hayeems, Secondary Findings Study Team, Joyce Yan, Abigail Hansen, Viji Venkataramanan, Daniel Assamad, Christian Marshall, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Olga Jarinova, Lynette Lau, Whiwon Lee, Lauren Badalato, Tugce Balci, Cara Inglese, Virginie Beausejour Ladouceur, Chantal Morel, Julie Richer, Mark Tarnopolsky, Anita Villani, Laura Zahavich, Olivia Moran, Sarah Sawyer, Roberto Mendoza-Londono, Martin Somerville, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101780- (2024)
Externí odkaz:
https://doaj.org/article/4be333aebe834f04a4f559f70ae040d3
Autor:
Abigail Hansen, Stephanie Luca, Olivia Moran, Riyana Babul-Hirji, Joyce Yan, Katharine Fooks, Viji Venkataramanan, Wendy Ungar, Robin Hayeems, Secondary Findings Study Team, Elise Poole, Daniel Assamad, Pooja Banglorewala, Lydia Vermeer, Christian Marshall, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, James Stavropoulos, Lijia Huang, Olga Jarinova, Lynette Lau, Whiwon Lee, Lauren Badalato, Tugce Balci, Lauren Chad, Cara Inglese, Virginie Ladouceur, Michael Mackley, Chantal Morel, Julie Richer, Mark Tarnopolsky, Anita Villani, Laura Zahavich, Sarah Sawyer, Roberto Mendoza-Londono, Martin Somerville, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101787- (2024)
Externí odkaz:
https://doaj.org/article/123c565b5d7a40e586b504ab2397ef25
Autor:
Aren E. Marshall, Stella K. MacDonald, Yijing Liang, Madeline Couse, Care4Rare Canada Consortium, Kym M. Boycott, Julie Richer, Kristin D. Kernohan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Intronic variants outside the canonical splice site are challenging to interpret and therefore likely represent an underreported cause of human disease. Autosomal recessive variants in DYNC2H1 are associated with short‐rib thora
Externí odkaz:
https://doaj.org/article/f01ce40dc9534065bd30512f67b34751
Autor:
Guylaine D'Amours, Emma Reble, Vernie Aguda, Marc Clausen, Salma Shickh, Chloe Mighton, June Carroll, Jordan Lerner-Ellis, Tanya Nelson, Julie Richer, Kasmintan Schrader, Emily Seto, Serena Shastri-Estrada, Kevin Thorpe, Yvonne Bombard
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100418- (2023)
Externí odkaz:
https://doaj.org/article/8671466cdaa044c4b0f19525e95224f4
Autor:
Joe Davis Velchev, Aline Verstraeten, Josephina Meester, Peter Ponsaerts, Julie Richer, Maaike Alaerts, Bart Loeys
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102932- (2022)
Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder. The major hallmark of LDS is thoracic aortic aneurysm and dissection (TAAD). We generated an induced pluripotent stem cell (iPSC) line of a severely affected LDS patient
Externí odkaz:
https://doaj.org/article/703b49f9f6ef45e5b994ba6d6da347e9
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 10, Iss , Pp 133-136 (2018)
Duplication of the methyl-CpG-binding protein 2 gene (MECP2) is a rare condition that results in epilepsy in half of the cases. Although this condition has been well characterized in the literature, there is a lack of research on MECP2 duplication-re
Externí odkaz:
https://doaj.org/article/8dc19080e7b7426ba1b861fe2ef55d49
Autor:
Aideen M, Moore, Julie, Richer
Publikováno v:
Paediatrics & Child Health. 27:243-247
Genetic testing has progressed rapidly over the past two decades and is becoming common in paediatrics. This statement provides an overview of recent developments that may impact genetic testing in children. Genetics is a rapidly evolving field, and
Autor:
Julia Hunter‐Schouela, Michael T. Geraghty, Robert A. Hegele, David A. Dyment, David St Pierre, Julie Richer, Holden Sheffield, Maimoona A. Zariwala, Michael R. Knowles, Anna Lehman, Sharon Dell, Adam J. Shapiro, Thomas A. Kovesi
Publikováno v:
Pediatric Pulmonology.