Germline mosaicism in X-linked periventricular nodular heterotopia

por LaPointe, Monique M, Spriggs, Elizabeth L, Mhanni, Aizeddin A
Publicado 2014

Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations

por Mhanni, Aizeddin A., Rockman‐Greenberg, Cheryl, Ryner, Lawrence, Bunge, Martin
Publicado 2021

Novel splice variants associated with one of the zebrafish dnmt3 genes

por Smith, Tamara HL, Dueck, Christine C, Mhanni, Aizeddin A, McGowan, Ross A
Publicado 2005

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

por Hartley, Jessica N., Booth, Frances A., Del Bigio, Marc R., Mhanni, Aizeddin A.
Publicado 2012

Isolated sulfite oxidase deficiency: a founder mutation

por Mhanni, Aizeddin A., Greenberg, Cheryl R., Spriggs, Elizabeth L., Agatep, Ronald, Sisk, Reena Ray, Prasad, Chitra
Publicado 2020

A novel WFS1 variant associated with isolated congenital cataracts

por Krutish, Angela, Elmore, James, Ilse, Werner, Johnston, Janine L., Hittel, Dustin, Kerr, Marina, Khan, Aneal, Rockman-Greenberg, Cheryl, Mhanni, Aizeddin A.
Publicado 2023

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

por Mhanni, Aizeddin A., Auray-Blais, Christiane, Boutin, Michel, Johnston, Alie, LeMoine, Kaye, Patterson, Jill, Aerts, Johannes M.F.G., West, Michael L., Rockman-Greenberg, Cheryl
Publicado 2020

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

por Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A., Szymanska, Katarzyna, Nguyen, Thanh-Minh T., Racher, Hilary, Phelps, Ian G., Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A., Sorusch, Nasrin, Abdelhamed, Zakia A., Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A., Letteboer, Stef J.F., Roosing, Susanne, Adams, Matthew, Bell, Sandra M., Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E., Tomlinson, Darren C., Slaats, Gisela G., van Dam, Teunis J. P., Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V., Boyle, Evan A., Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A., Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A., Chodirker, Bernard N., Chudley, Albert E., Lamont, Ryan, Bernier, Francois P., Beaulieu, Chandree L., Gordon, Paul, Pon, Richard T., Donahue, Clem, Barkovich, A. James, Wolf, Louis, Toomes, Carmel, Thiel, Christian T., Boycott, Kym M., McKibbin, Martin, Inglehearn, Chris F., Stewart, Fiona, Omran, Heymut, Huynen, Martijn A., Sergouniotis, Panagiotis I., Alkuraya, Fowzan S., Parboosingh, Jillian S., Innes, A Micheil, Willoughby, Colin E., Giles, Rachel H., Webster, Andrew R., Ueffing, Marius, Blacque, Oliver, Gleeson, Joseph G., Wolfrum, Uwe, Beales, Philip L., Gibson, Toby, Doherty, Dan, Mitchison, Hannah M., Roepman, Ronald, Johnson, Colin A.
Publicado 2015