Torthaí cuardaigh - St‐Denis, Anik
- 1 - 6 toradh as 6 á dtaispeáint
-
1
-
2
Fatal Mycobacterium colombiense/cytomegalovirus coinfection associated with acquired immunodeficiency due to autoantibodies against interferon gamma: a case report de réir Poulin, Sébastien, Corbeil, Claude, Nguyen, Mélanie, St-Denis, Anik, Côté, Lise, Le Deist, Françoise, Carignan, Alex
Foilsithe / Cruthaithe 2013Téacs -
3
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy de réir Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.
Foilsithe / Cruthaithe 2018Téacs -
4
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature de réir Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Foilsithe / Cruthaithe 2020Téacs -
5
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia de réir Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Foilsithe / Cruthaithe 2017Téacs -
6
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy de réir Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.
Foilsithe / Cruthaithe 2020Téacs