GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa
Published in American journal of human genetics (08.06.2012)
Published in American journal of human genetics (08.06.2012)
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Journal Article
Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene
Hasnain, Afia, Burnett, Sherri, Agatep, Ronald, Spriggs, Elizabeth, Chodirker, Bernard, Mhanni, Aizeddin Aziz A
Published in Cold Spring Harbor molecular case studies (01.10.2021)
Published in Cold Spring Harbor molecular case studies (01.10.2021)
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Journal Article
Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres
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
Published in Molecular genetics and metabolism reports (01.09.2020)
Published in Molecular genetics and metabolism reports (01.09.2020)
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Journal Article
Ketogenic Diet in Alpers-Huttenlocher Syndrome
Joshi, Charuta N., MBBS, Greenberg, Cheryl R., MD, CM, Mhanni, Aizeddin A., MD, PhD, Salman, Michael S., MBBS, PhD
Published in Pediatric neurology (01.04.2009)
Published in Pediatric neurology (01.04.2009)
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Journal Article
Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis
Leung, Edward C. W., Mhanni, Aizeddin A., Reed, Martin, Whyte, Michael P., Landy, Hal, Greenberg, Cheryl R.
Published in JIMD Reports - Volume 11 (01.01.2013)
Published in JIMD Reports - Volume 11 (01.01.2013)
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Book Chapter
Journal Article
Prolonged Survival and Serial Magnetic Resonance Imaging/Magnetic Resonance Spectroscopy Changes in Infantile Krabbe Disease
Udow, Sean, MD, Bunge, Martin, MD, Ryner, Lawrence, PhD, Mhanni, Aizeddin A., MBChB, PhD, Salman, Michael S., MBBS, PhD
Published in Pediatric neurology (01.10.2012)
Published in Pediatric neurology (01.10.2012)
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Journal Article
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, Araújo, Helena Caldeira, Coskun, Turgay, Diogo, Luisa, Geraghty, Michael, Haliloglu, Goknur, Konstantopoulou, Vassiliki, Leuzzi, Vincenzo, Levtova, Alina, MacKenzie, Jennifer, Maranda, Bruno, Mhanni, Aizeddin A., Mitchell, Grant, Morris, Andrew, Newlove, Theresa, Renaud, Deborah, Scaglia, Fernando, Valayannopoulos, Vassili, van Spronsen, Francjan J., Verbruggen, Krijn T., Yuskiv, Nataliya, Nyhan, William, Schulze, Andreas
Published in Molecular genetics and metabolism (01.01.2014)
Published in Molecular genetics and metabolism (01.01.2014)
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Journal Article
Reflex Seizures in a Patient with CDKL5 Deficiency Disorder
Peikes, Tyler, Hartley, Jessica N., Mhanni, Aizeddin A., Greenberg, Cheryl R., Appendino, Juan Pablo
Published in Canadian journal of neurological sciences (01.07.2019)
Published in Canadian journal of neurological sciences (01.07.2019)
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Journal Article
A novel WFS1 variant associated with isolated congenital cataracts
Krutish, Angela, Elmore, James, Ilse, Werner, Johnston, Janine L, Hittel, Dustin, Kerr, Marina, Khan, Aneal, Rockman-Greenberg, Cheryl, Mhanni, Aizeddin A
Published in Cold Spring Harbor molecular case studies (01.02.2023)
Published in Cold Spring Harbor molecular case studies (01.02.2023)
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Journal Article
SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache
Frosk, Patrick, Mhanni, Aizeddin A, Rafay, Mubeen F
Published in Journal of child neurology (01.03.2013)
Published in Journal of child neurology (01.03.2013)
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Journal Article
Isolated sulfite oxidase deficiency: a founder mutation
Mhanni, Aizeddin A, Greenberg, Cheryl R, Spriggs, Elizabeth L, Agatep, Ronald, Sisk, Reena Ray, Prasad, Chitra
Published in Cold Spring Harbor molecular case studies (01.12.2020)
Published in Cold Spring Harbor molecular case studies (01.12.2020)
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Journal Article
Evaluation of a Clinical Genetics Service – A Quality Initiative
Elliott, Alison M., Chodirker, Bernard N., Bocangel, Patricia, Mhanni, Aizeddin A.
Published in Journal of genetic counseling (01.10.2014)
Published in Journal of genetic counseling (01.10.2014)
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Journal Article
Germline mosaicism in X-linked periventricular nodular heterotopia
LaPointe, Monique M, Spriggs, Elizabeth L, Mhanni, Aizeddin A
Published in BMC neurology (07.06.2014)
Published in BMC neurology (07.06.2014)
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Journal Article
Immunological detection of changes in genomic DNA methylation during early zebrafish development
MacKay, Amy B, Mhanni, Aizeddin A, McGowan, Ross A, Krone, Patrick H
Published in Genome (01.08.2007)
Published in Genome (01.08.2007)
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Journal Article
Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood
Mhanni, Aizeddin A, Prasad, Chitra, Rockman-Greenberg, Cheryl
Published in Pediatric emergency care (01.09.2011)
Published in Pediatric emergency care (01.09.2011)
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Journal Article
Recurrent acute necrotizing encephalopathy in a canadian aboriginal child
Howayyer, Essam, Mhanni, Aizeddin A, Wrogemann, Jens, Salman, Michael S
Published in Canadian journal of neurological sciences (01.11.2011)
Published in Canadian journal of neurological sciences (01.11.2011)
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Journal Article
Chromosome microarray and undiagnosed seizures in a pediatric patient
Dawson, Angelika J, Mhanni, Aizeddin A, Booth, Frances A, Seargeant, Lorne, Bernier, Daniele, Tomiuk, Michelle, Hartley, Jessica N, Strecker, Michelle, Hovanes, Karine
Published in Canadian journal of neurological sciences (01.03.2014)
Published in Canadian journal of neurological sciences (01.03.2014)
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Journal Article
Genetic Counseling in a Busy Pediatric Metabolic Practice
Hartley, Jessica N., Greenberg, Cheryl R., Mhanni, Aizeddin A.
Published in Journal of genetic counseling (01.02.2011)
Published in Journal of genetic counseling (01.02.2011)
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Journal Article